A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv10099n54



Internal ID22777994
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:140850785..140859109hg38UCSC Ensembl
chr5:140230370..140238694hg19UCSC Ensembl
chr5:140210554..140218878hg18UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg388325
hg198325
hg188325
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv599893, nsv599881, nsv599887, nsv599877, nsv599869
Samples
Known GenesPCDHA1, PCDHA10, 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)dgv10099n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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