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dbVar

Database of genomic structural variation

esv3644097

Organism: Homo sapiens

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

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:208,612

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: 795 SVs from 62 studies. See in: genome view

Remapped(Score: Perfect):28,191,607-28,400,218

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3644097	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000019.10	Chr19	28,191,607	28,400,218
esv3644097	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000019.9	Chr19	28,682,514	28,891,125

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
essv16031444	duplication	SAMN01761222	Sequencing	Read depth and paired-end mapping	Heterozygous	3,312

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv16031444	Remapped	Perfect	NC_000019.10:g.281 91607_28400218dup	GRCh38.p12	First Pass	NC_000019.10	Chr19	28,191,607	28,400,218
essv16031444	Submitted genomic		NC_000019.9:g.2868 2514_28891125dup	GRCh37 (hg19)		NC_000019.9	Chr19	28,682,514	28,891,125

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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