A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2668763



Internal ID9588182
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:25218721..25219878hg38UCSC Ensembl
chr16:25230042..25231199hg19UCSC Ensembl
Cytoband16p12.1
Allele length
AssemblyAllele length
hg381158
hg191158
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5840479, essv6560725, essv6243751, essv5615722, essv6243120, essv5691433, essv5832613, essv6044471, essv6393773, essv5991512, essv5715932, essv5579359, essv5768534, essv5561638, essv5729723, essv5584361, essv5510354, essv5611309, essv5852662, essv6168599, essv5466200, essv6229855, essv5564194, essv5774381, essv6520361, essv5933334, essv6298835
SamplesNA12286, NA19664, HG00315, NA19350, NA12399, HG00337, NA19374, NA20796, HG01083, NA19384, NA20759, NA18868, NA19719, NA20811, NA19921, NA12777, NA20760, HG00320, NA18912, HG01107, NA19401, HG00375, NA19435, NA20341, NA20289, HG00171, HG00345
Known GenesAQP8
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2668763
Frequency
Sample Size1151
Observed Gain0
Observed Loss27
Observed Complex0
Frequencyn/a


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