A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2667261



Internal ID9933366
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:70539389..70540256hg38UCSC Ensembl
chr8:71451624..71452491hg19UCSC Ensembl
Cytoband8q13.3
Allele length
AssemblyAllele length
hg38868
hg19868
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5807524, essv6135763, essv6413702, essv6515525, essv5965817, essv5766307, essv5628909, essv6291337, essv6067853, essv6211731, essv6288875, essv5411141, essv5857636, essv5660205, essv6036320, essv6026753, essv5507375, essv5987623, essv6574871, essv5556288, essv6566185, essv6550072
SamplesNA18508, NA19399, NA19359, NA18504, NA19377, NA18519, NA19448, HG01167, NA19916, NA18868, NA19917, NA19238, NA19247, NA18516, HG01390, NA19461, NA18856, NA20276, NA19240, NA19360, NA18522, NA19429
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2667261
Frequency
Sample Size1151
Observed Gain0
Observed Loss22
Observed Complex0
Frequencyn/a


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