A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2671509



Internal ID9937614
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:50870566..50872183hg38UCSC Ensembl
chr13:51444702..51446319hg19UCSC Ensembl
Cytoband13q14.3
Allele length
AssemblyAllele length
hg381618
hg191618
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv352e199
Supporting Variantsessv5749057, essv5546748, essv6230531, essv5970964, essv5463063, essv5714899, essv6127476, essv5722130, essv5821640, essv5970445, essv5568076, essv5710891, essv5616537, essv6033818, essv6555548, essv5593388, essv6144575, essv6494725, essv5551555, essv5524811, essv6212485, essv5648391, essv6354161, essv5674415, essv6477394, essv6402215, essv5665293, essv5495808, essv5931902, essv6305232, essv6452527, essv6213021, essv6404452, essv5541881, essv6479833, essv6334480, essv6158951, essv6570786, essv5831173, essv5787181, essv5839715, essv6231419, essv5990613, essv6064783, essv6269716, essv5609087, essv6446159, essv5537533, essv6507949, essv6453542
SamplesNA19394, NA19701, NA19397, NA18924, NA19466, HG01052, NA18507, NA19359, NA19920, NA19396, NA19381, NA19382, NA19448, NA19916, NA19197, NA19130, NA19383, NA18874, NA19371, NA19385, NA19172, NA19317, NA19189, NA20342, NA19456, NA19445, NA19451, NA19908, HG01171, NA19462, NA19347, NA19455, NA19236, HG01498, NA18910, HG01073, HG01197, NA18499, NA19318, NA19395, NA19436, NA19380, NA19467, NA20281, HG01342, NA19328, NA18501, NA19468, HG01251, NA19430
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2671509
Frequency
Sample Size1151
Observed Gain0
Observed Loss50
Observed Complex0
Frequencyn/a


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