A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1111n54



Internal ID20134535
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:46172086..46281263hg38UCSC Ensembl
chr10:47543322..47652499hg19UCSC Ensembl
chr10:47013328..47122505hg18UCSC Ensembl
Cytoband10q11.22
Allele length
AssemblyAllele length
hg38109178
hg19109178
hg18109178
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv550743, nsv550742
SamplesHGDP01087, HGDP00479, HGDP00910, HGDP00815, HGDP01202, 1780862077_A, HGDP01098, HGDP01167, HGDP01187, HGDP00926, HGDP00913, HGDP00473, HGDP00651, HGDP00928, 1780862109_A, HGDP00727, HGDP00923, HGDP01405, HGDP00029, HGDP00472, HGDP00931, HGDP01029, HGDP00988, HGDP01286, HGDP00822
Known GenesANTXRLP1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv1111n54
Frequency
Sample Size17421
Observed Gain14
Observed Loss31
Observed Complex0
Frequencyn/a


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