A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv181e199



Internal ID20123483
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:133426409..133574443hg38UCSC Ensembl
chr10:135239913..135387947hg19UCSC Ensembl
Cytoband10q26.3
Allele length
AssemblyAllele length
hg38148035
hg19148035
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2677772, esv2668339
SamplesNA11830, NA19058, HG01356, HG00231, HG00608, HG00142, NA19066, HG00242, HG00559, HG01188, HG00306, NA19393, NA12058, HG00737, NA18982, NA18923, HG00634, NA18582, NA20540, HG01083, HG00311, NA20539, HG01080, HG01067, HG00120, NA11994, HG00534, NA19471, NA19087, HG01198, HG00159, HG00464, NA20535, NA18613, NA20800, NA19657, NA18538, NA20505, HG00732, NA19455, NA19663, NA19081, HG01149, HG00708, HG01390, HG00324, HG01073, HG00651, HG01197, NA12827, NA19452, HG00463, NA18570, NA18541, HG01204, HG00258, HG00124, NA19652, NA20801, HG00119, NA19434, NA20527, HG01342, HG00707, NA20528, NA19661, HG00171, NA19063
Known GenesCYP2E1, SCART1, SPRNP1, SYCE1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)dgv181e199
Frequency
Sample Size1151
Observed Gain0
Observed Loss68
Observed Complex0
Frequencyn/a


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