A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3905n106



Internal ID22797733
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:132480453..132481153hg38UCSC Ensembl
chr8:133492700..133493400hg19UCSC Ensembl
Cytoband8q24.22
Allele length
AssemblyAllele length
hg38701
hg19701
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1112967, nsv1119186
SamplesKWS2, KWS1
Known GenesKCNQ3
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)dgv3905n106
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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