A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv6791n54



Internal ID20140215
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:38733349..38744603hg38UCSC Ensembl
chr2:38960491..38971745hg19UCSC Ensembl
chr2:38813995..38825249hg18UCSC Ensembl
Cytoband2p22.1
Allele length
AssemblyAllele length
hg3811255
hg1911255
hg1811255
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv581492, nsv581491
Samples
Known GenesGALM, SRSF7
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv6791n54
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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