A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv6473n100



Internal ID20158089
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:76443262..76940323hg38UCSC Ensembl
chr7:76072579..76569640hg19UCSC Ensembl
chr7:75910515..76407576hg18UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg38497062
hg19497062
hg18497062
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1017721, nsv1024856, nsv1032424, nsv1029539, nsv1025135, nsv1018826, nsv1018456, nsv1032885, nsv1030417, nsv1025941, nsv1030230, nsv1022822, nsv1028548, nsv1025278, nsv1023090, nsv1025057, nsv1024172, nsv1019789, nsv1034841, nsv1027028, nsv1020153, nsv1016838, nsv1025823, nsv1025004
Samples
Known GenesDTX2, FDPSP2, 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)dgv6473n100
Frequency
Sample Size29084
Observed Gain58
Observed Loss0
Observed Complex0
Frequencyn/a


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