A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4003n100



Internal ID20155619
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:91578498..92117746hg38UCSC Ensembl
chr2:91766557..92305772hg19UCSC Ensembl
chr2:91130284..91669499hg18UCSC Ensembl
Cytoband2p11.1
Allele length
AssemblyAllele length
hg38539249
hg19539216
hg18539216
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1007356, nsv1004641, nsv1008617
Samples
Known GenesACTR3BP2, GGT8P, LOC654342
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv4003n100
Frequency
Sample Size29084
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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