A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv7361n54



Internal ID22775256
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:240674832..240769258hg38UCSC Ensembl
chr2:241614249..241708675hg19UCSC Ensembl
chr2:241262922..241357348hg18UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg3894427
hg1994427
hg1894427
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv584822, nsv584825, nsv584826, nsv584827
SamplesHGDP01255
Known GenesAQP12A, AQP12B, KIF1A
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv7361n54
Frequency
Sample Size17421
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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