A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv9715n54



Internal ID20143139
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:32100606..32169441hg38UCSC Ensembl
chr5:32100712..32169547hg19UCSC Ensembl
chr5:32136469..32205304hg18UCSC Ensembl
Cytoband5p13.3
Allele length
AssemblyAllele length
hg3868836
hg1968836
hg1868836
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv597768, nsv597779, nsv597770, nsv597778
SamplesHGDP00884, HGDP00351
Known GenesGOLPH3, PDZD2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv9715n54
Frequency
Sample Size17421
Observed Gain35
Observed Loss0
Observed Complex0
Frequencyn/a


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