A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv7338n54



Internal ID20140762
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:232367354..232444838hg38UCSC Ensembl
chr2:233232064..233309548hg19UCSC Ensembl
chr2:232940308..233017792hg18UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg3877485
hg1977485
hg1877485
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv584690, nsv584691
Samples
Known GenesALPP, ALPPL2, ECEL1P2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv7338n54
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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