A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv9906n54



Internal ID22777801
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:83246570..83338132hg38UCSC Ensembl
chr5:82542389..82633951hg19UCSC Ensembl
chr5:82578145..82669707hg18UCSC Ensembl
Cytoband5q14.2
Allele length
AssemblyAllele length
hg3891563
hg1991563
hg1891563
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv598783, nsv598782, nsv598781
SamplesHGDP00597, HGDP00189, HGDP00689, HGDP00583
Known GenesXRCC4
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv9906n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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