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dbVar

Database of genomic structural variation

esv3827626

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:167,359

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: 597 SVs from 63 studies. See in: genome view

Remapped(Score: Perfect):194,195,385-194,362,743

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3827626	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000002.12	Chr2	194,195,385	194,362,743
esv3827626	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000002.11	Chr2	195,060,109	195,227,467

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
essv18031315	deletion	HG00740	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,248
essv18031316	deletion	HG01072	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,701

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv18031315	Remapped	Perfect	NC_000002.12:g.194 195385_194362743de l	GRCh38.p12	First Pass	NC_000002.12	Chr2	194,195,385	194,362,743
essv18031316	Remapped	Perfect	NC_000002.12:g.194 195385_194362743de l	GRCh38.p12	First Pass	NC_000002.12	Chr2	194,195,385	194,362,743
essv18031315	Submitted genomic		NC_000002.11:g.195 060109_195227467de l	GRCh37 (hg19)		NC_000002.11	Chr2	195,060,109	195,227,467
essv18031316	Submitted genomic		NC_000002.11:g.195 060109_195227467de l	GRCh37 (hg19)		NC_000002.11	Chr2	195,060,109	195,227,467

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.

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