A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3817n100



Internal ID22789904
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:52171454..52361637hg38UCSC Ensembl
chr2:52398592..52588775hg19UCSC Ensembl
chr2:52252096..52442279hg18UCSC Ensembl
Cytoband2p16.3
Allele length
AssemblyAllele length
hg38190184
hg19190184
hg18190184
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1014046, nsv1013464, nsv999967, nsv997910, nsv1011669, nsv1006897
Samples
Known Genes
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv3817n100
Frequency
Sample Size11257
Observed Gain0
Observed Loss15
Observed Complex0
Frequencyn/a


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