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

dbVar

Database of genomic structural variation

esv3843303

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:1
Validation:Not tested
Clinical Assertions: No
Region Size:29,789

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: 232 SVs from 49 studies. See in: genome view

Remapped(Score: Perfect):178,789,857-178,820,645

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3843303	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000005.10	Chr5	178,790,357 (-500, +0)	178,820,145 (-0, +500)
esv3843303	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000005.9	Chr5	178,217,358 (-500, +0)	178,247,146 (-0, +500)

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
essv19881652	deletion	NA20895	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,398

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv19881652	Remapped	Perfect	NC_000005.10:g.(17 8789857_178790357) _(178820145_178820 645)del	GRCh38.p12	First Pass	NC_000005.10	Chr5	178,790,357 (-500, +0)	178,820,145 (-0, +500)
essv19881652	Submitted genomic		NC_000005.9:g.(178 216858_178217358)_ (178247146_1782476 46)del	GRCh37 (hg19)		NC_000005.9	Chr5	178,217,358 (-500, +0)	178,247,146 (-0, +500)

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