A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv10105n54



Internal ID20143529
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:140853365..140857963hg38UCSC Ensembl
chr5:140232950..140237548hg19UCSC Ensembl
chr5:140213134..140217732hg18UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg384599
hg194599
hg184599
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv599898, nsv599901
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)dgv10105n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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