A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2658860



Internal ID9578279
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:166299169..166302283hg38UCSC Ensembl
chr2:167155679..167158793hg19UCSC Ensembl
Cytoband2q24.3
Allele length
AssemblyAllele length
hg383115
hg193115
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
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2658860
Frequency
Sample Size1151
Observed Gain0
Observed Loss47
Observed Complex0
Frequencyn/a


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