A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv7337n54



Internal ID20140761
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:232340180..232450598hg38UCSC Ensembl
chr2:233204890..233315308hg19UCSC Ensembl
chr2:232913134..233023552hg18UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg38110419
hg19110419
hg18110419
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv584686, nsv584681, nsv584683, nsv584685
Samples1798860047_A, 1780862002_A
Known GenesALPP, ALPPL2, DIS3L2, ECEL1P2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv7337n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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