A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv11709n54



Internal ID19003885
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:147584704..147587260hg38UCSC Ensembl
chr7:147281796..147284352hg19UCSC Ensembl
chr7:146912729..146915285hg18UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg382557
hg192557
hg182557
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv608962, nsv608961
Samples
Known GenesCNTNAP2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv11709n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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