A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2422n54



Internal ID22770317
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:27779899..27780458hg38UCSC Ensembl
chr12:27932832..27933391hg19UCSC Ensembl
chr12:27824099..27824658hg18UCSC Ensembl
Cytoband12p11.22
Allele length
AssemblyAllele length
hg38560
hg19560
hg18560
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv557830, nsv557839
Samples
Known GenesKLHL42
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv2422n54
Frequency
Sample Size17421
Observed Gain2
Observed Loss3
Observed Complex0
Frequencyn/a


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