A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2131n106



Internal ID22795959
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:204163918..204164018hg38UCSC Ensembl
chr2:205028641..205028741hg19UCSC Ensembl
Cytoband2q33.3
Allele length
AssemblyAllele length
hg38101
hg19101
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1142295, nsv1133284
SamplesKWS2, KWS1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)dgv2131n106
Frequency
Sample Size2
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer