A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2675602



Internal ID9941707
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:211111730..211112007hg38UCSC Ensembl
chr1:211285072..211285349hg19UCSC Ensembl
Cytoband1q32.2
Allele length
AssemblyAllele length
hg38278
hg19278
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5703143, essv6195834, essv5928930, essv5650359, essv6126644, essv6207779, essv5965475, essv5917721, essv5438832, essv5882734, essv6422699, essv6421956, essv5793551, essv6122479, essv5835544, essv5634690, essv5405376, essv6192427, essv5883343, essv5557274, essv6314835, essv6504288, essv5792114, essv5745109, essv5660087, essv6439889, essv5927206, essv6590234, essv5502722, essv6284529, essv5444805, essv6471714, essv5864731, essv6597902, essv6197704, essv6475903, essv5895356, essv5765282, essv6089877, essv5805580, essv6250350
SamplesHG00650, HG00608, HG00524, HG00315, HG00699, NA18596, NA18606, HG00327, HG00138, HG01350, HG01070, HG00589, HG00702, HG00330, NA18582, NA19404, HG00512, HG00139, HG00705, HG00338, NA18557, HG01048, HG00260, HG00313, HG00137, HG00583, HG00324, HG01073, HG00331, NA18532, HG00276, HG00580, HG00375, HG00136, HG00418, HG00125, HG00672, HG00478, HG00310, NA18622, HG00581
Known GenesKCNH1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2675602
Frequency
Sample Size1151
Observed Gain0
Observed Loss41
Observed Complex0
Frequencyn/a


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