A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3994n100



Internal ID22790081
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:91451759..91640635hg38UCSC Ensembl
chr2:91644141..91828661hg19UCSC Ensembl
chr2:91007868..91192388hg18UCSC Ensembl
Cytoband2p11.1
Allele length
AssemblyAllele length
hg38188877
hg19184521
hg18184521
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1001317, nsv1012340, nsv1003746, nsv997749, nsv1012103, nsv1008958, nsv1011500, nsv1006440, nsv1002492, nsv1007978
Samples
Known GenesLOC654342
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv3994n100
Frequency
Sample Size11257
Observed Gain27
Observed Loss0
Observed Complex0
Frequencyn/a


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