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dbVar

Database of genomic structural variation

esv2757676

Organism: Homo sapiens

Study:estd1 (Redon et al. 2006)
Variant Type:copy number variation
Method Type:SNP array
Submitted on:NCBI35 (hg17)

Variant Calls:2
Validation:Not tested
Clinical Assertions: No
Region Size:10,644

Publication(s):Redon et al. 2006

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: 240 SVs from 28 studies. See in: genome view

Remapped(Score: Perfect):42,349,795-42,360,438

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
esv2757676	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000018.10	Chr18	42,349,795	42,360,438
esv2757676	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000018.9	Chr18	39,929,760	39,940,403
esv2757676	Submitted genomic		NCBI35 (hg17)	Primary Assembly		NC_000018.8	Chr18	38,183,758	38,194,401

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
essv8025	copy number loss	NA18871	SNP array	SNP genotyping analysis	92
essv8679	copy number loss	NA18912	SNP array	SNP genotyping analysis	125

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Outer Start	Inner Start	Inner Stop	Outer Stop
essv8025	Remapped	Perfect	NC_000018.10:g.(42 349795_42351256)_( 42360438_42360438) del	GRCh38.p12	First Pass	NC_000018.10	Chr18	42,349,795	42,351,256	42,360,438	42,360,438
essv8679	Remapped	Perfect	NC_000018.10:g.(42 351256_42351256)_( 42360438_42360438) del	GRCh38.p12	First Pass	NC_000018.10	Chr18	42,351,256	42,351,256	42,360,438	42,360,438
essv8025	Remapped	Perfect	NC_000018.9:g.(399 29760_39931221)_(3 9940403_39940403)d el	GRCh37.p13	First Pass	NC_000018.9	Chr18	39,929,760	39,931,221	39,940,403	39,940,403
essv8679	Remapped	Perfect	NC_000018.9:g.(399 31221_39931221)_(3 9940403_39940403)d el	GRCh37.p13	First Pass	NC_000018.9	Chr18	39,931,221	39,931,221	39,940,403	39,940,403
essv8025	Submitted genomic		NC_000018.8:g.(381 83758_38185219)_(3 8194401_38194401)d el	NCBI35 (hg17)		NC_000018.8	Chr18	38,183,758	38,185,219	38,194,401	38,194,401
essv8679	Submitted genomic		NC_000018.8:g.(381 85219_38185219)_(3 8194401_38194401)d el	NCBI35 (hg17)		NC_000018.8	Chr18	38,185,219	38,185,219	38,194,401	38,194,401

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

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