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

dbVar

Database of genomic structural variation

esv3825717

Organism: Homo sapiens

Study:estd219 (1000 Genomes Consortium Phase 3 Integrated SV)
Variant Type:copy number variation
Method Type:Sequencing
Submitted on:GRCh37

Variant Calls:2
Validation:Not tested
Clinical Assertions: No
Region Size:17,204

Publication(s):1000 Genomes Consortium Phase 3 Integrated SV

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

Remapped(Score: Perfect):116,809,199-116,826,402

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3825717	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000002.12	Chr2	116,809,199	116,826,402
esv3825717	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000002.11	Chr2	117,566,775	117,583,978

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
essv17812722	copy number loss	HG01248	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,370
essv17812723	copy number gain	HG01441	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,162

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv17812722	Remapped	Perfect	NC_000002.12:g.116 809199_116826402de l	GRCh38.p12	First Pass	NC_000002.12	Chr2	116,809,199	116,826,402
essv17812723	Remapped	Perfect	NC_000002.12:g.116 809199_116826402du p	GRCh38.p12	First Pass	NC_000002.12	Chr2	116,809,199	116,826,402
essv17812722	Submitted genomic		NC_000002.11:g.117 566775_117583978de l	GRCh37 (hg19)		NC_000002.11	Chr2	117,566,775	117,583,978
essv17812723	Submitted genomic		NC_000002.11:g.117 566775_117583978du p	GRCh37 (hg19)		NC_000002.11	Chr2	117,566,775	117,583,978

No validation data were submitted for this variant

No clinical assertion data were submitted for this variant

Genotype and/or allele frequency data can be found on dbVar's FTP site.

You are here: NCBI