A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv10092n54



Internal ID20143516
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:140835344..140850785hg38UCSC Ensembl
chr5:140214929..140230370hg19UCSC Ensembl
chr5:140195113..140210554hg18UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg3815442
hg1915442
hg1815442
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv599827, nsv599835, nsv599830, nsv599833, nsv599836, nsv599840, nsv599829, nsv599837, nsv599838, nsv599834, nsv599828, nsv599832, nsv599831
Samples
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)dgv10092n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss16
Observed Complex0
Frequencyn/a


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