A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv11711n54



Internal ID19003887
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:148377131..148379386hg38UCSC Ensembl
chr7:148074223..148076478hg19UCSC Ensembl
chr7:147705156..147707411hg18UCSC Ensembl
Cytoband7q36.1
Allele length
AssemblyAllele length
hg382256
hg192256
hg182256
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv608967, nsv608968, nsv608970
Samples
Known GenesCNTNAP2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv11711n54
Frequency
Sample Size17421
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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