A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2677320



Internal ID9596739
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:71456402..71456547hg38UCSC Ensembl
chr10:73216159..73216304hg19UCSC Ensembl
Cytoband10q22.1
Allele length
AssemblyAllele length
hg38146
hg19146
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5972772, essv5487349, essv6587154, essv5983295, essv5756330, essv6074850, essv6337274, essv6407910, essv6476808, essv5830288, essv5970275, essv5537815, essv5872218, essv6388489, essv6351199, essv6066568, essv6495826, essv5975708, essv5934045, essv6026661, essv5862030, essv6526555, essv6187797, essv5617145, essv5666180, essv5712375, essv5529146, essv5952986, essv6010174, essv5447854, essv6470222, essv6303043, essv5593010, essv6519962, essv6033085, essv5468294
SamplesNA19137, NA18861, NA18520, NA18871, HG01052, NA18933, NA19404, NA18874, NA19093, NA19435, NA19359, NA19920, NA19379, NA18507, HG01188, NA19108, NA19355, NA18873, NA19428, NA20127, HG01136, NA19360, NA19380, NA19172, NA19374, NA19375, NA18486, NA18510, NA18502, NA19347, NA19235, NA18907, NA18909, NA19391, NA19434, HG01462
Known GenesCDH23
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2677320
Frequency
Sample Size1151
Observed Gain0
Observed Loss36
Observed Complex0
Frequencyn/a


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