A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2676203



Internal ID9942308
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:203918138..203920094hg38UCSC Ensembl
Outerchr1:203917767..203920664hg38UCSC Ensembl
Innerchr1:203887266..203889222hg19UCSC Ensembl
Outerchr1:203886895..203889792hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg382898
hg192898
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv90e199
Supporting Variantsessv5620771, essv6528433, essv5609356, essv5411115, essv5572015, essv6472773, essv5550740, essv5571154, essv6449844, essv6208722, essv6068371, essv5427342, essv5836131, essv6178478, essv5689982, essv5808669, essv6389678, essv5953808, essv5445333, essv6058313, essv5408747, essv5630427, essv6209832, essv5751128, essv6325153, essv6078574, essv5738747, essv5532577, essv6504262, essv6556621, essv5682001, essv5852987, essv6485562, essv5521356, essv5490705, essv6239465, essv5502912, essv5939124, essv6556074, essv5473106, essv5474534, essv6355101, essv6069998, essv5618408, essv5895601, essv5658201, essv6335740, essv5964096, essv5433817, essv6266285, essv6260822, essv6382737, essv6146568
SamplesNA19399, NA19332, NA18507, NA19350, NA18504, NA19377, NA19107, NA19446, NA19382, NA18489, NA19448, NA18923, NA18498, NA19384, NA19130, NA19404, NA18868, NA19235, NA19385, NA19172, NA19471, NA19317, NA19451, NA18934, NA19403, NA19347, NA19455, NA19236, NA18910, NA18907, NA18856, NA19453, NA18853, NA19257, NA19395, NA19436, NA19440, NA19434, NA19473, NA19439, NA19470, NA19311, NA19360, NA19472, NA19468, NA19474, NA19102, NA19116, NA19430, NA19316, NA19463, NA19429, NA19431
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2676203
Frequency
Sample Size1151
Observed Gain0
Observed Loss53
Observed Complex0
Frequencyn/a


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