A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv10096n54



Internal ID20143520
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:140847633..140852761hg38UCSC Ensembl
chr5:140227218..140232346hg19UCSC Ensembl
chr5:140207402..140212530hg18UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg385129
hg195129
hg185129
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv599851, nsv599855
SamplesHGDP00433, HGDP00226, HGDP00140, HGDP01067, HGDP01323, HGDP00618
Known GenesPCDHA1, PCDHA2, PCDHA3, PCDHA4, PCDHA5, PCDHA6, PCDHA7, PCDHA8, PCDHA9
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv10096n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss18
Observed Complex0
Frequencyn/a


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