A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2661327



Internal ID9927432
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:101359135..101362741hg38UCSC Ensembl
Outerchr7:101358564..101363111hg38UCSC Ensembl
Innerchr7:101002416..101006022hg19UCSC Ensembl
Outerchr7:101001845..101006392hg19UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg384548
hg194548
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1230e199
Supporting Variantsessv6212533, essv6340938, essv5962312, essv5801183, essv5687576, essv5568864, essv6285438, essv5810591, essv6412413, essv6511890, essv6469642, essv5629610, essv5802250, essv6431950, essv5820789, essv6427413, essv6377399, essv5608361, essv5457838, essv5783933, essv5642699, essv5881470, essv5733701, essv6299435, essv6570605, essv6533007, essv5412867, essv5712042, essv5508515, essv6356668, essv5972106, essv5408608, essv5487627, essv5749536, essv6390652
SamplesNA19394, NA19350, HG01518, NA19443, HG01522, NA19446, NA19396, NA19379, NA19448, NA19404, NA19372, NA19437, NA19347, NA19391, NA19461, NA19453, NA19338, NA19469, NA19395, NA19436, NA19440, NA19321, NA19434, NA19435, NA19438, NA19468, NA19474, NA19430, NA19316, NA19312, NA19463, NA19429, NA19346, NA19431, HG01516
Known GenesCOL26A1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2661327
Frequency
Sample Size1151
Observed Gain0
Observed Loss35
Observed Complex0
Frequencyn/a


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