A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv6479n100



Internal ID19016847
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:76506401..76977978hg38UCSC Ensembl
chr7:76135718..76607295hg19UCSC Ensembl
chr7:75973654..76445231hg18UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg38471578
hg19471578
hg18471578
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1019065, nsv1022762, nsv1018356, nsv1033668, nsv1031997, nsv1034943, nsv1031035
Samples
Known GenesLOC100133091, 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)dgv6479n100
Frequency
Sample Size29084
Observed Gain60
Observed Loss17
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer