A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2656830



Internal ID9922935
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:27147516..27147753hg38UCSC Ensembl
chr8:27005033..27005270hg19UCSC Ensembl
Cytoband8p21.2
Allele length
AssemblyAllele length
hg38238
hg19238
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5420443, essv5969250, essv6219973, essv6556027, essv6124218, essv5397121, essv5607487, essv5607200, essv6581490, essv6337269, essv6485285, essv6170404, essv5498869, essv6263270, essv6519684, essv5704042, essv6086638, essv6524817, essv6133559, essv5680631, essv6062905, essv5963924, essv6232575, essv5570915, essv5496320, essv5656316, essv6143355, essv5755128
SamplesNA19648, NA11995, NA18861, NA19399, NA19819, NA12399, NA12413, NA19373, NA19201, NA19382, NA18923, NA19404, NA19207, NA19456, HG01102, NA18856, NA12827, NA19108, NA20276, NA20804, NA19144, NA19360, NA19328, NA19116, NA19900, HG00274, NA18511, NA07000
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2656830
Frequency
Sample Size1151
Observed Gain0
Observed Loss28
Observed Complex0
Frequencyn/a


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