A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv11707n54



Internal ID19003883
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:147582083..147585926hg38UCSC Ensembl
chr7:147279175..147283018hg19UCSC Ensembl
chr7:146910108..146913951hg18UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg383844
hg193844
hg183844
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv608955, nsv608959, nsv608958
Samples
Known GenesCNTNAP2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv11707n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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