A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2251n54



Internal ID20135675
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:553282..1101718hg38UCSC Ensembl
chr12:662448..1210884hg19UCSC Ensembl
chr12:532709..1081145hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg38548437
hg19548437
hg18548437
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv556892, nsv556890
SamplesHGDP00466
Known GenesB4GALNT3, ERC1, NINJ2, RAD52, WNK1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv2251n54
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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