A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv9714n54



Internal ID20143138
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:32100606..32159411hg38UCSC Ensembl
chr5:32100712..32159517hg19UCSC Ensembl
chr5:32136469..32195274hg18UCSC Ensembl
Cytoband5p13.3
Allele length
AssemblyAllele length
hg3858806
hg1958806
hg1858806
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv597769, nsv597773, nsv597776, nsv597775, nsv597777, nsv597774, nsv597767, nsv597772
SamplesHGDP01401, HGDP00025, HGDP01246, HGDP01156, HGDP00001, HGDP01212, HGDP01187, HGDP00878, HGDP01184, HGDP00755, HGDP01343, HGDP00750, HGDP01247, HGDP00029, HGDP01340, HGDP01191, HGDP01349, HGDP01147, HGDP01356, HGDP00597
Known GenesGOLPH3, PDZD2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv9714n54
Frequency
Sample Size17421
Observed Gain32
Observed Loss0
Observed Complex0
Frequencyn/a


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