A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv6794n54



Internal ID20140218
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:39927704..40014728hg38UCSC Ensembl
chr2:40154844..40241868hg19UCSC Ensembl
chr2:40008348..40095372hg18UCSC Ensembl
Cytoband2p22.1
Allele length
AssemblyAllele length
hg3887025
hg1987025
hg1887025
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv581498, nsv581499
Samples
Known GenesSLC8A1-AS1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv6794n54
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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