A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2081n106



Internal ID20161438
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:165158183..165160234hg38UCSC Ensembl
chr2:166014693..166016744hg19UCSC Ensembl
Cytoband2q24.3
Allele length
AssemblyAllele length
hg382052
hg192052
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1135349, nsv1112002
SamplesKWS2
Known GenesSCN3A
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)dgv2081n106
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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