A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2129n106



Internal ID22795957
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:201281925..201284736hg38UCSC Ensembl
chr2:202146648..202149459hg19UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg382812
hg192812
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1121227, nsv1119104, nsv1111582
SamplesKWS2, KWS1
Known GenesCASP8
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)dgv2129n106
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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