A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv6475n100



Internal ID19016843
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:76443262..77136114hg38UCSC Ensembl
chr7:76072579..76765431hg19UCSC Ensembl
chr7:75910515..76603367hg18UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg38692853
hg19692853
hg18692853
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1022820, nsv1034734, nsv1028429, nsv1033494
Samples
Known GenesCCDC146, DTX2, DTX2P1-UPK3BP1-PMS2P11, FDPSP2, LOC100132832, LOC100133091, POMZP3, UPK3B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv6475n100
Frequency
Sample Size29084
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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