A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv6478n100



Internal ID20158094
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:76506401..76818391hg38UCSC Ensembl
chr7:76135718..76447708hg19UCSC Ensembl
chr7:75973654..76285644hg18UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg38311991
hg19311991
hg18311991
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1033106, nsv1026684, nsv1016083
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)dgv6478n100
Frequency
Sample Size29084
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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