A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv11702n54



Internal ID19003878
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:146323844..146385865hg38UCSC Ensembl
chr7:146020936..146082957hg19UCSC Ensembl
chr7:145651869..145713890hg18UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg3862022
hg1962022
hg1862022
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv608929, nsv608930
Samples
Known GenesCNTNAP2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv11702n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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