Warning: The NCBI web site requires JavaScript to function. more...

dbVar

Database of genomic structural variation

esv3989311

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:2
Validation:Not tested
Clinical Assertions: No
Region Size:30,219

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: 183 SVs from 35 studies. See in: genome view

Remapped(Score: Perfect):37,552,479-37,582,697

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Outer Start	Outer Stop
esv3989311	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000002.12	Chr2	37,552,479	37,582,697
esv3989311	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000002.11	Chr2	37,779,622	37,809,840

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Copy number	Other Calls in this Sample and Study
essv25907848	deletion	DGMQ-31611	SNP array, Sequencing	Other, Probe signal intensity, Read depth	1	1,480
essv26038966	deletion	DGMQ-32145	SNP array, Sequencing	Other, Probe signal intensity, Read depth	1	1,532

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Outer Start	Outer Stop
essv25907848	Remapped	Perfect	NC_000002.12:g.(37 552479_?)_(?_37582 697)del	GRCh38.p12	First Pass	NC_000002.12	Chr2	37,552,479	37,582,697
essv26038966	Remapped	Perfect	NC_000002.12:g.(37 553149_?)_(?_37564 178)del	GRCh38.p12	First Pass	NC_000002.12	Chr2	37,553,149	37,564,178
essv25907848	Submitted genomic		NC_000002.11:g.(37 779622_?)_(?_37809 840)del	GRCh37 (hg19)		NC_000002.11	Chr2	37,779,622	37,809,840
essv26038966	Submitted genomic		NC_000002.11:g.(37 780292_?)_(?_37791 321)del	GRCh37 (hg19)		NC_000002.11	Chr2	37,780,292	37,791,321

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

You are here: NCBI