A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv6593n100



Internal ID22792680
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:118067692..118082066hg38UCSC Ensembl
chr7:117707746..117722120hg19UCSC Ensembl
chr7:117494982..117509356hg18UCSC Ensembl
Cytoband7q31.31
Allele length
AssemblyAllele length
hg3814375
hg1914375
hg1814375
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1015980, nsv1018914, nsv1016668
Samples
Known Genes
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv6593n100
Frequency
Sample Size11257
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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