A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv6790n54



Internal ID20140214
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:38727987..38746672hg38UCSC Ensembl
chr2:38955129..38973814hg19UCSC Ensembl
chr2:38808633..38827318hg18UCSC Ensembl
Cytoband2p22.1
Allele length
AssemblyAllele length
hg3818686
hg1918686
hg1818686
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv581488, nsv581490, nsv581489, nsv581486
Samples
Known GenesGALM, SRSF7
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv6790n54
Frequency
Sample Size17421
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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