A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv6337n100



Internal ID19016705
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:39385389..39602662hg38UCSC Ensembl
chr7:39424988..39642261hg19UCSC Ensembl
chr7:39391513..39608786hg18UCSC Ensembl
Cytoband7p14.1
Allele length
AssemblyAllele length
hg38217274
hg19217274
hg18217274
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1021180, nsv1026951
Samples
Known GenesPOU6F2, POU6F2-AS1, YAE1D1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv6337n100
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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