A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2464n54



Internal ID20135888
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:31094164..31262057hg38UCSC Ensembl
chr12:31247098..31414991hg19UCSC Ensembl
chr12:31138365..31306258hg18UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg38167894
hg19167894
hg18167894
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv558051, nsv558043, nsv558041, nsv558042, nsv558038, nsv558045, nsv558049, nsv558047, nsv558044, nsv558048, nsv558037, nsv558040, nsv558046, nsv558039
SamplesHGDP00539, HGDP00230, 1782681076_A, 1780854362_A, HGDP00060, NINDS_159, HGDP00224, 1780854279_A, 1798860552_A, HGDP00563, HGDP01300, HGDP00915, HGDP00009, 1780862551_A, HGDP00951, 1780854231_A, 1780862528_A, HGDP00923, HGDP00673, NINDS_76, 1780862574_A, NINDS_256, HGDP01253, HGDP00514, HGDP00925, 1780862576_A, 1782681277_A, 1780862312_A, 1782681115_A, 1782681296_A, HGDP00698, 1780862575_A, 1782681109_A, HGDP01362, 1780854446_A, 1780854481_A, 1780854159_A, HGDP01155, 1782681316_A, NINDS_29, 1782681164_A, HGDP01377, HGDP01280, NINDS_245, HGDP00533, 1780854296_A, HGDP01274, 1780862127_A, NINDS_178
Known GenesDDX11
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv2464n54
Frequency
Sample Size17421
Observed Gain95
Observed Loss0
Observed Complex0
Frequencyn/a


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