A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4179n54



Internal ID22772074
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:20220816..20424722hg38UCSC Ensembl
chr15:20426069..20629975hg19UCSC Ensembl
chr15:18686083..18889989hg18UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg38203907
hg19203907
hg18203907
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv567306, nsv567292, nsv567316
Samples
Known GenesCHEK2P2, HERC2P3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv4179n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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