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

dbVar

Database of genomic structural variation

esv3646645

Organism: Homo sapiens

Study:estd214 (1000 Genomes Consortium Phase 3)
Variant Type:copy number variation
Method Type:Sequencing
Submitted on:GRCh37

Variant Calls:2
Validation:Not tested
Clinical Assertions: No
Region Size:14,910

Publication(s):1000 Genomes Project Consortium 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: 358 SVs from 41 studies. See in: genome view

Remapped(Score: Perfect):23,277,758-23,292,667

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3646645	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000021.9	Chr21	23,277,758	23,292,667
esv3646645	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000021.8	Chr21	24,650,080	24,664,989

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
essv16287617	copy number loss	SAMN00004646	Sequencing	Read depth and paired-end mapping	Heterozygous	2,568
essv16287618	copy number gain	SAMN00009178	Sequencing	Read depth and paired-end mapping	Heterozygous	2,703

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv16287617	Remapped	Perfect	NC_000021.9:g.2327 7758_23292667del	GRCh38.p12	First Pass	NC_000021.9	Chr21	23,277,758	23,292,667
essv16287618	Remapped	Perfect	NC_000021.9:g.2327 7758_23292667dup	GRCh38.p12	First Pass	NC_000021.9	Chr21	23,277,758	23,292,667
essv16287617	Submitted genomic		NC_000021.8:g.2465 0080_24664989del	GRCh37 (hg19)		NC_000021.8	Chr21	24,650,080	24,664,989
essv16287618	Submitted genomic		NC_000021.8:g.2465 0080_24664989dup	GRCh37 (hg19)		NC_000021.8	Chr21	24,650,080	24,664,989

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