A curated catalogue of human genomic structural variation

Variant Details

Variant: esv2658860

Internal ID9578279
Location Information
TypeCoordinatesAssemblyOther Links
chr2:166299169..166302283hg38UCSC Ensembl
chr2:167155679..167158793hg19UCSC Ensembl
Allele length
AssemblyAllele length
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6005578, essv5499101, essv6169452, essv5706615, essv5657030, essv6113343, essv5770675, essv5746316, essv6472479, essv6095370, essv6299708, essv5579085, essv6484226, essv6337885, essv5921057, essv6572243, essv6561638, essv6426308, essv6556675, essv6243885, essv6342866, essv6201351, essv5500426, essv6327006, essv6465863, essv5846847, essv6473556, essv6427900, essv6293891, essv5410505, essv6055468, essv6072791, essv6466274, essv6415536, essv5670004, essv5696492, essv6276265, essv5925571, essv6316855, essv6050816, essv5607166, essv6136709, essv5681885, essv6201199, essv5428094, essv5479278, essv5649095
SamplesNA19248, NA19445, HG01440, NA19712, NA18520, NA19904, HG01083, NA19311, NA19435, NA19317, NA19920, NA19108, NA19701, NA19236, NA19472, NA18873, NA18868, HG01254, HG01107, NA19463, NA19982, NA18508, NA19917, NA19900, NA19107, NA19397, NA19256, NA18916, NA19700, NA19395, NA19172, NA19373, NA19384, NA18498, NA19102, NA19713, HG01170, NA19131, NA19711, NA19462, NA19235, NA19921, NA18907, NA20332, NA19225, NA19399, NA19130
Known GenesSCN9A
AnalysisNo reference, merging analysis
CommentsHigh quality site
Pubmed ID23128226
Accession Number(s)esv2658860
Sample Size1151
Observed Gain0
Observed Loss47
Observed Complex0

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