U.S. flag

An official website of the United States government

esv3988505

  • Variant Calls:36
  • Validation:Not tested
  • Clinical Assertions: No
  • Region Size:10,520

Links to Other Resources

Source: NCBI

Genome View

Select assembly:
Overlapping variant regions from other studies: 257 SVs from 56 studies. See in: genome view    
Remapped(Score: Perfect):131,762,028-131,771,477Question Mark
Overlapping variant regions from other studies: 32 SVs from 20 studies. See in: genome view    
Remapped(Score: Pass):64,992-75,511Question Mark
Overlapping variant regions from other studies: 257 SVs from 56 studies. See in: genome view    
Submitted genomic132,519,601-132,529,050Question Mark

Variant Region Placement Information

Variant Region IDPlacement TypeScoreAssemblyAssembly UnitReciprocitySequence IDChrOuter StartOuter Stop
esv3988505RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000002.12Chr2131,762,028131,771,477
esv3988505RemappedPassGRCh38.p12ALT_REF_LOCI_1Second PassNT_187528.1Chr2|NT_18
7528.1
64,99275,511
esv3988505Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000002.11Chr2132,519,601132,529,050

Variant Call Information

Variant Call IDTypeSample IDMethodAnalysisCopy numberOther Calls in this Sample and Study
essv25973292deletionDGMQ-31416SNP array, SequencingOther, Probe signal intensity, Read depth11,428
essv25897547deletionDGMQ-31644SNP array, SequencingOther, Probe signal intensity, Read depth11,419
essv25936078deletionDGMQ-32224SNP array, SequencingOther, Probe signal intensity, Read depth11,608
essv25964614deletionDGMQ-31617SNP array, SequencingOther, Probe signal intensity, Read depth11,636
essv25971580deletionDGMQ-32118SNP array, SequencingOther, Probe signal intensity, Read depth11,534
essv26030831deletionDGMQ-32308SNP array, SequencingOther, Probe signal intensity, Read depth11,712
essv25939461deletionDGMQ-31131SNP array, SequencingOther, Probe signal intensity, Read depth11,468
essv25954399deletionDGMQ-31609SNP array, SequencingOther, Probe signal intensity, Read depth11,567
essv26006415deletionDGMQ-32121SNP array, SequencingOther, Probe signal intensity, Read depth11,702
essv26032719deletionDGMQ-31717SNP array, SequencingOther, Probe signal intensity, Read depth11,423
essv25952577deletionDGMQ-31639SNP array, SequencingOther, Probe signal intensity, Read depth11,641
essv25985695deletionDGMQ-31508SNP array, SequencingOther, Probe signal intensity, Read depth11,545
essv25997783deletionDGMQ-31568SNP array, SequencingOther, Probe signal intensity, Read depth11,594
essv26004556deletionDGMQ-32064SNP array, SequencingOther, Probe signal intensity, Read depth11,555
essv26038017deletionDGMQ-31725SNP array, SequencingOther, Probe signal intensity, Read depth11,478
essv25902726deletionDGMQ-32215SNP array, SequencingOther, Probe signal intensity, Read depth11,575
essv25920372deletionDGMQ-32061SNP array, SequencingOther, Probe signal intensity, Read depth11,712
essv25956096deletionDGMQ-32287SNP array, SequencingOther, Probe signal intensity, Read depth11,502
essv25969704deletionDGMQ-31123SNP array, SequencingOther, Probe signal intensity, Read depth11,704
essv25983930deletionDGMQ-31254SNP array, SequencingOther, Probe signal intensity, Read depth11,558
essv25989140deletionDGMQ-32148SNP array, SequencingOther, Probe signal intensity, Read depth11,526
essv26013745deletionDGMQ-31245SNP array, SequencingOther, Probe signal intensity, Read depth11,474
essv25897548deletionDGMQ-31644SNP array, SequencingOther, Probe signal intensity, Read depth11,419
essv25904435deletionDGMQ-31237SNP array, SequencingOther, Probe signal intensity, Read depth11,475
essv25936079deletionDGMQ-32224SNP array, SequencingOther, Probe signal intensity, Read depth11,608
essv25939472deletionDGMQ-31131SNP array, SequencingOther, Probe signal intensity, Read depth11,468
essv25954401deletionDGMQ-31609SNP array, SequencingOther, Probe signal intensity, Read depth11,567
essv25964615deletionDGMQ-31617SNP array, SequencingOther, Probe signal intensity, Read depth11,636
essv25973293deletionDGMQ-31416SNP array, SequencingOther, Probe signal intensity, Read depth11,428
essv25985696deletionDGMQ-31508SNP array, SequencingOther, Probe signal intensity, Read depth11,545
essv26004567deletionDGMQ-32064SNP array, SequencingOther, Probe signal intensity, Read depth11,555
essv26006416deletionDGMQ-32121SNP array, SequencingOther, Probe signal intensity, Read depth11,702
essv26032720deletionDGMQ-31717SNP array, SequencingOther, Probe signal intensity, Read depth11,423
essv26038018deletionDGMQ-31725SNP array, SequencingOther, Probe signal intensity, Read depth11,478
essv25997784deletionDGMQ-31568SNP array, SequencingOther, Probe signal intensity, Read depth11,594
essv26022301deletionDGMQ-31724SNP array, SequencingOther, Probe signal intensity, Read depth11,583

Variant Call Placement Information

Variant Call IDPlacement TypeScoreHGVSAssemblyReciprocitySequence IDChrOuter StartInner StopOuter Stop
essv25973292RemappedGoodNT_187528.1:g.(649
92_?)_(?_67654)del
GRCh38.p12Second PassNT_187528.1Chr2|NT_18
7528.1
64,992-67,654
essv25897547RemappedPassNT_187528.1:g.(649
92_?)_(67770_?)del
GRCh38.p12Second PassNT_187528.1Chr2|NT_18
7528.1
64,99267,770-
essv25936078RemappedPassNT_187528.1:g.(649
92_?)_(67770_?)del
GRCh38.p12Second PassNT_187528.1Chr2|NT_18
7528.1
64,99267,770-
essv25964614RemappedPassNT_187528.1:g.(649
92_?)_(67770_?)del
GRCh38.p12Second PassNT_187528.1Chr2|NT_18
7528.1
64,99267,770-
essv25971580RemappedPassNT_187528.1:g.(649
92_?)_(?_75511)del
GRCh38.p12Second PassNT_187528.1Chr2|NT_18
7528.1
64,992-75,511
essv26030831RemappedPassNT_187528.1:g.(649
92_?)_(?_75511)del
GRCh38.p12Second PassNT_187528.1Chr2|NT_18
7528.1
64,992-75,511
essv25939461RemappedPassNT_187528.1:g.(654
42_?)_(67770_?)del
GRCh38.p12Second PassNT_187528.1Chr2|NT_18
7528.1
65,44267,770-
essv25954399RemappedPassNT_187528.1:g.(654
42_?)_(67770_?)del
GRCh38.p12Second PassNT_187528.1Chr2|NT_18
7528.1
65,44267,770-
essv26006415RemappedPassNT_187528.1:g.(654
42_?)_(67770_?)del
GRCh38.p12Second PassNT_187528.1Chr2|NT_18
7528.1
65,44267,770-
essv26032719RemappedPassNT_187528.1:g.(654
42_?)_(67770_?)del
GRCh38.p12Second PassNT_187528.1Chr2|NT_18
7528.1
65,44267,770-
essv25952577RemappedPassNT_187528.1:g.(654
42_?)_(?_75511)del
GRCh38.p12Second PassNT_187528.1Chr2|NT_18
7528.1
65,442-75,511
essv25985695RemappedPassNT_187528.1:g.(658
92_?)_(67770_?)del
GRCh38.p12Second PassNT_187528.1Chr2|NT_18
7528.1
65,89267,770-
essv25997783RemappedPassNT_187528.1:g.(658
92_?)_(67770_?)del
GRCh38.p12Second PassNT_187528.1Chr2|NT_18
7528.1
65,89267,770-
essv26004556RemappedPassNT_187528.1:g.(658
92_?)_(67770_?)del
GRCh38.p12Second PassNT_187528.1Chr2|NT_18
7528.1
65,89267,770-
essv26038017RemappedPassNT_187528.1:g.(658
92_?)_(67770_?)del
GRCh38.p12Second PassNT_187528.1Chr2|NT_18
7528.1
65,89267,770-
essv25902726RemappedPassNT_187528.1:g.(658
92_?)_(?_75511)del
GRCh38.p12Second PassNT_187528.1Chr2|NT_18
7528.1
65,892-75,511
essv25920372RemappedPassNT_187528.1:g.(658
92_?)_(?_75511)del
GRCh38.p12Second PassNT_187528.1Chr2|NT_18
7528.1
65,892-75,511
essv25956096RemappedPassNT_187528.1:g.(658
92_?)_(?_75511)del
GRCh38.p12Second PassNT_187528.1Chr2|NT_18
7528.1
65,892-75,511
essv25969704RemappedPassNT_187528.1:g.(658
92_?)_(?_75511)del
GRCh38.p12Second PassNT_187528.1Chr2|NT_18
7528.1
65,892-75,511
essv25983930RemappedPassNT_187528.1:g.(658
92_?)_(?_75511)del
GRCh38.p12Second PassNT_187528.1Chr2|NT_18
7528.1
65,892-75,511
essv25989140RemappedPassNT_187528.1:g.(658
92_?)_(?_75511)del
GRCh38.p12Second PassNT_187528.1Chr2|NT_18
7528.1
65,892-75,511
essv26013745RemappedPassNT_187528.1:g.(658
92_?)_(?_75511)del
GRCh38.p12Second PassNT_187528.1Chr2|NT_18
7528.1
65,892-75,511
essv25973292RemappedPerfectNC_000002.12:g.(13
1762028_?)_(?_1317
64727)del
GRCh38.p12First PassNC_000002.12Chr2131,762,028-131,764,727
essv25897547RemappedPerfectNC_000002.12:g.(13
1762028_?)_(?_1317
65177)del
GRCh38.p12First PassNC_000002.12Chr2131,762,028-131,765,177
essv25936078RemappedPerfectNC_000002.12:g.(13
1762028_?)_(?_1317
65177)del
GRCh38.p12First PassNC_000002.12Chr2131,762,028-131,765,177
essv25964614RemappedPerfectNC_000002.12:g.(13
1762028_?)_(?_1317
65177)del
GRCh38.p12First PassNC_000002.12Chr2131,762,028-131,765,177
essv25971580RemappedPerfectNC_000002.12:g.(13
1762028_?)_(?_1317
71477)del
GRCh38.p12First PassNC_000002.12Chr2131,762,028-131,771,477
essv26030831RemappedPerfectNC_000002.12:g.(13
1762028_?)_(?_1317
71477)del
GRCh38.p12First PassNC_000002.12Chr2131,762,028-131,771,477
essv25939461RemappedPerfectNC_000002.12:g.(13
1762478_?)_(?_1317
65177)del
GRCh38.p12First PassNC_000002.12Chr2131,762,478-131,765,177
essv25954399RemappedPerfectNC_000002.12:g.(13
1762478_?)_(?_1317
65177)del
GRCh38.p12First PassNC_000002.12Chr2131,762,478-131,765,177
essv26006415RemappedPerfectNC_000002.12:g.(13
1762478_?)_(?_1317
65177)del
GRCh38.p12First PassNC_000002.12Chr2131,762,478-131,765,177
essv26032719RemappedPerfectNC_000002.12:g.(13
1762478_?)_(?_1317
65177)del
GRCh38.p12First PassNC_000002.12Chr2131,762,478-131,765,177
essv25952577RemappedPerfectNC_000002.12:g.(13
1762478_?)_(?_1317
71477)del
GRCh38.p12First PassNC_000002.12Chr2131,762,478-131,771,477
essv25985695RemappedPerfectNC_000002.12:g.(13
1762928_?)_(?_1317
65177)del
GRCh38.p12First PassNC_000002.12Chr2131,762,928-131,765,177
essv26004556RemappedPerfectNC_000002.12:g.(13
1762928_?)_(?_1317
65177)del
GRCh38.p12First PassNC_000002.12Chr2131,762,928-131,765,177
essv26038017RemappedPerfectNC_000002.12:g.(13
1762928_?)_(?_1317
65177)del
GRCh38.p12First PassNC_000002.12Chr2131,762,928-131,765,177
essv25997783RemappedPerfectNC_000002.12:g.(13
1762928_?)_(?_1317
65627)del
GRCh38.p12First PassNC_000002.12Chr2131,762,928-131,765,627
essv25902726RemappedPerfectNC_000002.12:g.(13
1762928_?)_(?_1317
71477)del
GRCh38.p12First PassNC_000002.12Chr2131,762,928-131,771,477
essv25920372RemappedPerfectNC_000002.12:g.(13
1762928_?)_(?_1317
71477)del
GRCh38.p12First PassNC_000002.12Chr2131,762,928-131,771,477
essv25956096RemappedPerfectNC_000002.12:g.(13
1762928_?)_(?_1317
71477)del
GRCh38.p12First PassNC_000002.12Chr2131,762,928-131,771,477
essv25969704RemappedPerfectNC_000002.12:g.(13
1762928_?)_(?_1317
71477)del
GRCh38.p12First PassNC_000002.12Chr2131,762,928-131,771,477
essv25983930RemappedPerfectNC_000002.12:g.(13
1762928_?)_(?_1317
71477)del
GRCh38.p12First PassNC_000002.12Chr2131,762,928-131,771,477
essv25989140RemappedPerfectNC_000002.12:g.(13
1762928_?)_(?_1317
71477)del
GRCh38.p12First PassNC_000002.12Chr2131,762,928-131,771,477
essv26013745RemappedPerfectNC_000002.12:g.(13
1762928_?)_(?_1317
71477)del
GRCh38.p12First PassNC_000002.12Chr2131,762,928-131,771,477
essv25897548RemappedPerfectNC_000002.12:g.(13
1767428_?)_(?_1317
71477)del
GRCh38.p12First PassNC_000002.12Chr2131,767,428-131,771,477
essv25904435RemappedPerfectNC_000002.12:g.(13
1767428_?)_(?_1317
71477)del
GRCh38.p12First PassNC_000002.12Chr2131,767,428-131,771,477
essv25936079RemappedPerfectNC_000002.12:g.(13
1767428_?)_(?_1317
71477)del
GRCh38.p12First PassNC_000002.12Chr2131,767,428-131,771,477
essv25939472RemappedPerfectNC_000002.12:g.(13
1767428_?)_(?_1317
71477)del
GRCh38.p12First PassNC_000002.12Chr2131,767,428-131,771,477
essv25954401RemappedPerfectNC_000002.12:g.(13
1767428_?)_(?_1317
71477)del
GRCh38.p12First PassNC_000002.12Chr2131,767,428-131,771,477
essv25964615RemappedPerfectNC_000002.12:g.(13
1767428_?)_(?_1317
71477)del
GRCh38.p12First PassNC_000002.12Chr2131,767,428-131,771,477
essv25973293RemappedPerfectNC_000002.12:g.(13
1767428_?)_(?_1317
71477)del
GRCh38.p12First PassNC_000002.12Chr2131,767,428-131,771,477
essv25985696RemappedPerfectNC_000002.12:g.(13
1767428_?)_(?_1317
71477)del
GRCh38.p12First PassNC_000002.12Chr2131,767,428-131,771,477
essv26004567RemappedPerfectNC_000002.12:g.(13
1767428_?)_(?_1317
71477)del
GRCh38.p12First PassNC_000002.12Chr2131,767,428-131,771,477
essv26006416RemappedPerfectNC_000002.12:g.(13
1767428_?)_(?_1317
71477)del
GRCh38.p12First PassNC_000002.12Chr2131,767,428-131,771,477
essv26032720RemappedPerfectNC_000002.12:g.(13
1767428_?)_(?_1317
71477)del
GRCh38.p12First PassNC_000002.12Chr2131,767,428-131,771,477
essv26038018RemappedPerfectNC_000002.12:g.(13
1767428_?)_(?_1317
71477)del
GRCh38.p12First PassNC_000002.12Chr2131,767,428-131,771,477
essv25997784RemappedPerfectNC_000002.12:g.(13
1768328_?)_(?_1317
71477)del
GRCh38.p12First PassNC_000002.12Chr2131,768,328-131,771,477
essv26022301RemappedPerfectNC_000002.12:g.(13
1768328_?)_(?_1317
71477)del
GRCh38.p12First PassNC_000002.12Chr2131,768,328-131,771,477
essv25973292Submitted genomicNC_000002.11:g.(13
2519601_?)_(?_1325
22300)del
GRCh37 (hg19)NC_000002.11Chr2132,519,601-132,522,300
essv25897547Submitted genomicNC_000002.11:g.(13
2519601_?)_(?_1325
22750)del
GRCh37 (hg19)NC_000002.11Chr2132,519,601-132,522,750
essv25936078Submitted genomicNC_000002.11:g.(13
2519601_?)_(?_1325
22750)del
GRCh37 (hg19)NC_000002.11Chr2132,519,601-132,522,750
essv25964614Submitted genomicNC_000002.11:g.(13
2519601_?)_(?_1325
22750)del
GRCh37 (hg19)NC_000002.11Chr2132,519,601-132,522,750
essv25971580Submitted genomicNC_000002.11:g.(13
2519601_?)_(?_1325
29050)del
GRCh37 (hg19)NC_000002.11Chr2132,519,601-132,529,050
essv26030831Submitted genomicNC_000002.11:g.(13
2519601_?)_(?_1325
29050)del
GRCh37 (hg19)NC_000002.11Chr2132,519,601-132,529,050
essv25939461Submitted genomicNC_000002.11:g.(13
2520051_?)_(?_1325
22750)del
GRCh37 (hg19)NC_000002.11Chr2132,520,051-132,522,750
essv25954399Submitted genomicNC_000002.11:g.(13
2520051_?)_(?_1325
22750)del
GRCh37 (hg19)NC_000002.11Chr2132,520,051-132,522,750
essv26006415Submitted genomicNC_000002.11:g.(13
2520051_?)_(?_1325
22750)del
GRCh37 (hg19)NC_000002.11Chr2132,520,051-132,522,750
essv26032719Submitted genomicNC_000002.11:g.(13
2520051_?)_(?_1325
22750)del
GRCh37 (hg19)NC_000002.11Chr2132,520,051-132,522,750
essv25952577Submitted genomicNC_000002.11:g.(13
2520051_?)_(?_1325
29050)del
GRCh37 (hg19)NC_000002.11Chr2132,520,051-132,529,050
essv25985695Submitted genomicNC_000002.11:g.(13
2520501_?)_(?_1325
22750)del
GRCh37 (hg19)NC_000002.11Chr2132,520,501-132,522,750
essv26004556Submitted genomicNC_000002.11:g.(13
2520501_?)_(?_1325
22750)del
GRCh37 (hg19)NC_000002.11Chr2132,520,501-132,522,750
essv26038017Submitted genomicNC_000002.11:g.(13
2520501_?)_(?_1325
22750)del
GRCh37 (hg19)NC_000002.11Chr2132,520,501-132,522,750
essv25997783Submitted genomicNC_000002.11:g.(13
2520501_?)_(?_1325
23200)del
GRCh37 (hg19)NC_000002.11Chr2132,520,501-132,523,200
essv25902726Submitted genomicNC_000002.11:g.(13
2520501_?)_(?_1325
29050)del
GRCh37 (hg19)NC_000002.11Chr2132,520,501-132,529,050
essv25920372Submitted genomicNC_000002.11:g.(13
2520501_?)_(?_1325
29050)del
GRCh37 (hg19)NC_000002.11Chr2132,520,501-132,529,050
essv25956096Submitted genomicNC_000002.11:g.(13
2520501_?)_(?_1325
29050)del
GRCh37 (hg19)NC_000002.11Chr2132,520,501-132,529,050
essv25969704Submitted genomicNC_000002.11:g.(13
2520501_?)_(?_1325
29050)del
GRCh37 (hg19)NC_000002.11Chr2132,520,501-132,529,050
essv25983930Submitted genomicNC_000002.11:g.(13
2520501_?)_(?_1325
29050)del
GRCh37 (hg19)NC_000002.11Chr2132,520,501-132,529,050
essv25989140Submitted genomicNC_000002.11:g.(13
2520501_?)_(?_1325
29050)del
GRCh37 (hg19)NC_000002.11Chr2132,520,501-132,529,050
essv26013745Submitted genomicNC_000002.11:g.(13
2520501_?)_(?_1325
29050)del
GRCh37 (hg19)NC_000002.11Chr2132,520,501-132,529,050
essv25897548Submitted genomicNC_000002.11:g.(13
2525001_?)_(?_1325
29050)del
GRCh37 (hg19)NC_000002.11Chr2132,525,001-132,529,050
essv25904435Submitted genomicNC_000002.11:g.(13
2525001_?)_(?_1325
29050)del
GRCh37 (hg19)NC_000002.11Chr2132,525,001-132,529,050
essv25936079Submitted genomicNC_000002.11:g.(13
2525001_?)_(?_1325
29050)del
GRCh37 (hg19)NC_000002.11Chr2132,525,001-132,529,050
essv25939472Submitted genomicNC_000002.11:g.(13
2525001_?)_(?_1325
29050)del
GRCh37 (hg19)NC_000002.11Chr2132,525,001-132,529,050
essv25954401Submitted genomicNC_000002.11:g.(13
2525001_?)_(?_1325
29050)del
GRCh37 (hg19)NC_000002.11Chr2132,525,001-132,529,050
essv25964615Submitted genomicNC_000002.11:g.(13
2525001_?)_(?_1325
29050)del
GRCh37 (hg19)NC_000002.11Chr2132,525,001-132,529,050
essv25973293Submitted genomicNC_000002.11:g.(13
2525001_?)_(?_1325
29050)del
GRCh37 (hg19)NC_000002.11Chr2132,525,001-132,529,050
essv25985696Submitted genomicNC_000002.11:g.(13
2525001_?)_(?_1325
29050)del
GRCh37 (hg19)NC_000002.11Chr2132,525,001-132,529,050
essv26004567Submitted genomicNC_000002.11:g.(13
2525001_?)_(?_1325
29050)del
GRCh37 (hg19)NC_000002.11Chr2132,525,001-132,529,050
essv26006416Submitted genomicNC_000002.11:g.(13
2525001_?)_(?_1325
29050)del
GRCh37 (hg19)NC_000002.11Chr2132,525,001-132,529,050
essv26032720Submitted genomicNC_000002.11:g.(13
2525001_?)_(?_1325
29050)del
GRCh37 (hg19)NC_000002.11Chr2132,525,001-132,529,050
essv26038018Submitted genomicNC_000002.11:g.(13
2525001_?)_(?_1325
29050)del
GRCh37 (hg19)NC_000002.11Chr2132,525,001-132,529,050
essv25997784Submitted genomicNC_000002.11:g.(13
2525901_?)_(?_1325
29050)del
GRCh37 (hg19)NC_000002.11Chr2132,525,901-132,529,050
essv26022301Submitted genomicNC_000002.11:g.(13
2525901_?)_(?_1325
29050)del
GRCh37 (hg19)NC_000002.11Chr2132,525,901-132,529,050

No validation data were submitted for this variant

No clinical assertion data were submitted for this variant

No genotype data were submitted for this variant

Support Center