A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv6793n54



Internal ID22774688
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:39924742..39981525hg38UCSC Ensembl
chr2:40151882..40208665hg19UCSC Ensembl
chr2:40005386..40062169hg18UCSC Ensembl
Cytoband2p22.1
Allele length
AssemblyAllele length
hg3856784
hg1956784
hg1856784
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv581497, nsv581500
SamplesHGDP00428, HGDP00146
Known GenesSLC8A1-AS1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv6793n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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