A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3593679



Internal ID6981002
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:186809862..186811792hg38UCSC Ensembl
Innerchr2:186809862..186811792hg38UCSC Ensembl
Outerchr2:186809640..186812069hg38UCSC Ensembl
chr2:187674589..187676519hg19UCSC Ensembl
Innerchr2:187674589..187676519hg19UCSC Ensembl
Outerchr2:187674367..187676796hg19UCSC Ensembl
Cytoband2q32.1
Allele length
AssemblyAllele length
hg381931
hg191931
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10791293, essv10791311, essv10791297, essv10791315, essv10791290, essv10791310, essv10791304, essv10791288, essv10791291, essv10791305, essv10791296, essv10791301, essv10791312, essv10791302, essv10791307, essv10791283, essv10791308, essv10791314, essv10791295, essv10791300, essv10791284, essv10791282, essv10791306, essv10791313, essv10791298, essv10791303, essv10791289, essv10791285, essv10791299, essv10791286, essv10791287, essv10791292, essv10791309, essv10791294
SamplesHG03121, HG02798, HG02870, NA18504, NA20359, HG02840, NA19922, NA19238, NA19207, HG02946, NA19239, HG02479, HG02716, HG02943, HG02977, HG03511, NA19403, HG02582, HG02470, NA19257, NA20296, HG01894, HG02721, HG03433, HG03127, HG03473, HG03108, HG02974, NA19472, HG03066, HG02646, HG03049, NA20289, NA18522
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3593679
Frequency
Sample Size2504
Observed Gain0
Observed Loss34
Observed Complex0
Frequencyn/a


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