A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2656462



Internal ID9922567
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:82970519..82970656hg38UCSC Ensembl
chr17:80928395..80928532hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg38138
hg19138
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5726128, essv6141725, essv5606945, essv6267907, essv5942924, essv6087465, essv6177144, essv6220018, essv6219145, essv5968182, essv6005942, essv5537317, essv5529217, essv6567257, essv6510355, essv6071060, essv5813108, essv5939756, essv5544584, essv5510282, essv6046597, essv5775356, essv5576739, essv6576595, essv6467538, essv5852156, essv5466227, essv6062738, essv6187512, essv6129140, essv6365933, essv6348238, essv6596015, essv6345332, essv5944329, essv5895433, essv5870087, essv5807646, essv5468853, essv6371744, essv5777063, essv5762512, essv5914361, essv5467943, essv5536197
SamplesHG01060, NA18508, NA19399, NA19359, NA18486, NA12751, NA19379, NA18940, NA18519, NA19138, NA18498, HG01365, NA18964, NA19404, HG01069, HG01072, NA20340, HG01183, NA19210, NA18934, NA18933, HG00533, NA18871, HG00619, HG01073, NA19114, NA19655, HG00531, NA18499, NA19257, NA18523, NA19375, NA19390, NA19108, NA19010, NA19428, NA19311, NA19376, HG00707, NA20348, NA19711, NA19900, HG01377, NA19346, NA18487
Known GenesB3GNTL1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2656462
Frequency
Sample Size1151
Observed Gain0
Observed Loss45
Observed Complex0
Frequencyn/a


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