A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv182e55



Internal ID20126661
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:100580466..100760540hg38UCSC Ensembl
chr3:100299310..100479384hg19UCSC Ensembl
chr3:101782000..101962074hg18UCSC Ensembl
chr3:101782000..101962074hg17UCSC Ensembl
Cytoband3q12.2
Allele length
AssemblyAllele length
hg38180075
hg19180075
hg18180075
hg17180075
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2751969, esv2751968, esv2751967, esv2751965, esv2751966
SamplesBEC_396, BEC_400, BEC_374, BEC_536, BEC_537
Known GenesABI3BP, GPR128, TFG
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Affymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)dgv182e55
Frequency
Sample Size771
Observed Gain15
Observed Loss0
Observed Complex0
Frequencyn/a


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