esv3975571

Organism: Homo sapiens

Study:estd229 (Fakhro et al. 2015)
Variant Type:copy number variation
Method Type:SNP array, Sequencing
Submitted on:GRCh37 (hg19)

Variant Calls:11
Validation:Not tested
Clinical Assertions: No
Region Size:9,507

Publication(s):Fakhro et al. 2015

Links to Other Resources

Overlapping Genes

Source: NCBI

Genome View
Variant Region Details and Evidence
Validation Information
Clinical Assertions
Genotype Information

Genome View

Select assembly:

Overlapping variant regions from other studies: 687 SVs from 74 studies. See in: genome view

Remapped(Score: Perfect):12,810,905-12,820,411

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Outer Start	Outer Stop
esv3975571	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000005.10	Chr5	12,810,905	12,820,411
esv3975571	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000005.9	Chr5	12,811,017	12,820,523

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Copy number	Other Calls in this Sample and Study
essv25898506	deletion	DGMQ-32145	SNP array, Sequencing	Other, Probe signal intensity, Read depth	0	1,532
essv25909562	deletion	DGMQ-32368	SNP array, Sequencing	Other, Probe signal intensity, Read depth	1	1,513
essv25942627	deletion	DGMQ-32325	SNP array, Sequencing	Other, Probe signal intensity, Read depth	0	1,499
essv25950685	deletion	DGMQ-32056	SNP array, Sequencing	Other, Probe signal intensity, Read depth	1	1,667
essv25963011	deletion	DGMQ-32977	SNP array, Sequencing	Other, Probe signal intensity, Read depth	1	1,525
essv25992773	deletion	DGMQ-31537	SNP array, Sequencing	Other, Probe signal intensity, Read depth	1	1,606
essv25994559	deletion	DGMQ-31529	SNP array, Sequencing	Other, Probe signal intensity, Read depth	1	1,515
essv26009687	deletion	DGMQ-31552	SNP array, Sequencing	Other, Probe signal intensity, Read depth	0	1,615
essv26011527	deletion	DGMQ-31601	SNP array, Sequencing	Other, Probe signal intensity, Read depth	0	1,666
essv26041533	deletion	DGMQ-31574	SNP array, Sequencing	Other, Probe signal intensity, Read depth	1	1,528
essv26043267	deletion	DGMQ-31226	SNP array, Sequencing	Other, Probe signal intensity, Read depth	1	1,486

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Outer Start	Outer Stop
essv25898506	Remapped	Perfect	NC_000005.10:g.(12 810905_?)_(?_12820 411)del	GRCh38.p12	First Pass	NC_000005.10	Chr5	12,810,905	12,820,411
essv25909562	Remapped	Perfect	NC_000005.10:g.(12 810905_?)_(?_12820 411)del	GRCh38.p12	First Pass	NC_000005.10	Chr5	12,810,905	12,820,411
essv25942627	Remapped	Perfect	NC_000005.10:g.(12 810905_?)_(?_12820 411)del	GRCh38.p12	First Pass	NC_000005.10	Chr5	12,810,905	12,820,411
essv25950685	Remapped	Perfect	NC_000005.10:g.(12 810905_?)_(?_12820 411)del	GRCh38.p12	First Pass	NC_000005.10	Chr5	12,810,905	12,820,411
essv25963011	Remapped	Perfect	NC_000005.10:g.(12 810905_?)_(?_12820 411)del	GRCh38.p12	First Pass	NC_000005.10	Chr5	12,810,905	12,820,411
essv25992773	Remapped	Perfect	NC_000005.10:g.(12 810905_?)_(?_12820 411)del	GRCh38.p12	First Pass	NC_000005.10	Chr5	12,810,905	12,820,411
essv25994559	Remapped	Perfect	NC_000005.10:g.(12 810905_?)_(?_12820 411)del	GRCh38.p12	First Pass	NC_000005.10	Chr5	12,810,905	12,820,411
essv26009687	Remapped	Perfect	NC_000005.10:g.(12 810905_?)_(?_12820 411)del	GRCh38.p12	First Pass	NC_000005.10	Chr5	12,810,905	12,820,411
essv26011527	Remapped	Perfect	NC_000005.10:g.(12 810905_?)_(?_12820 411)del	GRCh38.p12	First Pass	NC_000005.10	Chr5	12,810,905	12,820,411
essv26041533	Remapped	Perfect	NC_000005.10:g.(12 810905_?)_(?_12820 411)del	GRCh38.p12	First Pass	NC_000005.10	Chr5	12,810,905	12,820,411
essv26043267	Remapped	Perfect	NC_000005.10:g.(12 810905_?)_(?_12820 411)del	GRCh38.p12	First Pass	NC_000005.10	Chr5	12,810,905	12,820,411
essv25898506	Submitted genomic		NC_000005.9:g.(128 11017_?)_(?_128205 23)del	GRCh37 (hg19)		NC_000005.9	Chr5	12,811,017	12,820,523
essv25909562	Submitted genomic		NC_000005.9:g.(128 11017_?)_(?_128205 23)del	GRCh37 (hg19)		NC_000005.9	Chr5	12,811,017	12,820,523
essv25942627	Submitted genomic		NC_000005.9:g.(128 11017_?)_(?_128205 23)del	GRCh37 (hg19)		NC_000005.9	Chr5	12,811,017	12,820,523
essv25950685	Submitted genomic		NC_000005.9:g.(128 11017_?)_(?_128205 23)del	GRCh37 (hg19)		NC_000005.9	Chr5	12,811,017	12,820,523
essv25963011	Submitted genomic		NC_000005.9:g.(128 11017_?)_(?_128205 23)del	GRCh37 (hg19)		NC_000005.9	Chr5	12,811,017	12,820,523
essv25992773	Submitted genomic		NC_000005.9:g.(128 11017_?)_(?_128205 23)del	GRCh37 (hg19)		NC_000005.9	Chr5	12,811,017	12,820,523
essv25994559	Submitted genomic		NC_000005.9:g.(128 11017_?)_(?_128205 23)del	GRCh37 (hg19)		NC_000005.9	Chr5	12,811,017	12,820,523
essv26009687	Submitted genomic		NC_000005.9:g.(128 11017_?)_(?_128205 23)del	GRCh37 (hg19)		NC_000005.9	Chr5	12,811,017	12,820,523
essv26011527	Submitted genomic		NC_000005.9:g.(128 11017_?)_(?_128205 23)del	GRCh37 (hg19)		NC_000005.9	Chr5	12,811,017	12,820,523
essv26041533	Submitted genomic		NC_000005.9:g.(128 11017_?)_(?_128205 23)del	GRCh37 (hg19)		NC_000005.9	Chr5	12,811,017	12,820,523
essv26043267	Submitted genomic		NC_000005.9:g.(128 11017_?)_(?_128205 23)del	GRCh37 (hg19)		NC_000005.9	Chr5	12,811,017	12,820,523

dbVar

Database of genomic structural variation

esv3975571

Links to Other Resources

Genome View

Variant Region Placement Information

Variant Call Information

Variant Call Placement Information

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