A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv7334n54



Internal ID22775229
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:230314161..230393735hg38UCSC Ensembl
chr2:231178876..231258450hg19UCSC Ensembl
chr2:230887120..230966694hg18UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg3879575
hg1979575
hg1879575
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv584670, nsv584669, nsv584668
Samples
Known GenesSP140L
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv7334n54
Frequency
Sample Size17421
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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