A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv7360n54



Internal ID22775255
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:240674832..240744491hg38UCSC Ensembl
chr2:241614249..241683908hg19UCSC Ensembl
chr2:241262922..241332581hg18UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg3869660
hg1969660
hg1869660
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv584823, nsv584824, nsv584821
Samples
Known GenesAQP12A, AQP12B, KIF1A
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv7360n54
Frequency
Sample Size17421
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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