A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2667091



Internal ID9933196
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:99425325..99426087hg38UCSC Ensembl
chr1:99890881..99891643hg19UCSC Ensembl
Cytoband1p21.2
Allele length
AssemblyAllele length
hg38763
hg19763
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6499815, essv5614274, essv5811027, essv5458324, essv6136538, essv6033736, essv5939495, essv5842533, essv5809990, essv5908288, essv5456303, essv6185776, essv5495173, essv5949444, essv5561909, essv6182558, essv6275520, essv6104088, essv5956618, essv5628978, essv6589570, essv5407059, essv5695052, essv6271008, essv6398767, essv6229891, essv6523679, essv6014273, essv6596565, essv6590488, essv5618809, essv5577347, essv5512226, essv6194344, essv5861398, essv6545116, essv5729747, essv6394232, essv6190528, essv6337710, essv5487058, essv5549184, essv5680064, essv5723159, essv6023269, essv6205179, essv6200789
SamplesNA19394, NA19397, NA19909, NA18861, NA19914, NA18917, NA19107, NA19446, NA19396, NA19379, NA19201, NA19315, NA18960, NA18498, HG01080, NA19383, NA19385, NA19209, NA19247, NA19152, NA19327, NA18871, HG01047, NA19114, NA18856, NA19338, NA19225, NA19469, NA19440, NA19435, NA19439, NA19470, NA19360, HG01342, NA19376, NA19398, NA18501, NA19438, NA19713, NA19102, NA18505, NA19129, NA19312, NA19463, NA18522, NA19346, NA19153
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2667091
Frequency
Sample Size1151
Observed Gain0
Observed Loss47
Observed Complex0
Frequencyn/a


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