A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv6946n54



Internal ID22774841
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:86065218..86280565hg38UCSC Ensembl
chr2:86292341..86507688hg19UCSC Ensembl
chr2:86145852..86361199hg18UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg38215348
hg19215348
hg18215348
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv582370, nsv582371
SamplesNINDS_47
Known GenesIMMT, MIR4779, MRPL35, POLR1A, PTCD3, REEP1, SNORD94
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv6946n54
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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