A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2658378



Internal ID9924483
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:86421387..86425093hg38UCSC Ensembl
Outerchr8:86421016..86425463hg38UCSC Ensembl
Innerchr8:87433616..87437322hg19UCSC Ensembl
Outerchr8:87433245..87437692hg19UCSC Ensembl
Cytoband8q21.3
Allele length
AssemblyAllele length
hg384448
hg194448
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6197422, essv5421348, essv5607335, essv6179546, essv5870793, essv6239323, essv6224469, essv5961895, essv6473716, essv5423438, essv6211246, essv6557153, essv5963693, essv6094032, essv5734838, essv5520435, essv6205354, essv6376499, essv5806307, essv5827721, essv6494667, essv5539510, essv6134498, essv6056669, essv6062472, essv5922520, essv5533511
SamplesHG01441, HG01359, HG01389, HG01374, HG01461, HG01140, HG01350, HG01366, HG01351, HG01488, HG01492, HG01354, HG01365, HG01440, HG01124, HG01353, HG01136, HG01384, HG01390, HG01383, HG01148, HG01375, HG01137, HG01489, HG01491, HG01125, HG01437
Known GenesWWP1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2658378
Frequency
Sample Size1151
Observed Gain0
Observed Loss27
Observed Complex0
Frequencyn/a


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