A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3588718



Internal ID6976134
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:210427784..210430411hg38UCSC Ensembl
Innerchr1:210427795..210430401hg38UCSC Ensembl
Outerchr1:210427774..210430422hg38UCSC Ensembl
chr1:210601128..210603755hg19UCSC Ensembl
Innerchr1:210601139..210603745hg19UCSC Ensembl
Outerchr1:210601118..210603766hg19UCSC Ensembl
Cytoband1q32.2
Allele length
AssemblyAllele length
hg382628
hg192628
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10284505, essv10284496, essv10284479, essv10284514, essv10284491, essv10284508, essv10284509, essv10284474, essv10284476, essv10284485, essv10284506, essv10284480, essv10284503, essv10284499, essv10284500, essv10284497, essv10284484, essv10284498, essv10284475, essv10284482, essv10284487, essv10284507, essv10284478, essv10284477, essv10284486, essv10284513, essv10284512, essv10284483, essv10284488, essv10284494, essv10284510, essv10284489, essv10284504, essv10284495, essv10284493, essv10284490, essv10284502, essv10284511, essv10284481, essv10284492, essv10284501
SamplesHG02339, HG03121, NA19204, HG03300, HG02798, NA19020, NA20332, NA20356, HG03452, HG03485, HG03479, HG03520, HG02634, HG02642, NA19471, NA18864, HG03270, HG03511, NA19403, HG02334, NA19327, NA19717, HG01845, HG03575, HG03081, HG02445, HG02666, NA19160, NA19095, HG01988, HG03127, HG03084, NA19143, NA19472, NA19468, HG02676, NA19213, HG03401, NA19121, HG01111, HG03439
Known GenesHHAT
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3588718
Frequency
Sample Size2504
Observed Gain0
Observed Loss41
Observed Complex0
Frequencyn/a


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