A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2188n106



Internal ID22796016
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:239914283..239916283hg38UCSC Ensembl
chr2:240853700..240855700hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg382001
hg192001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1132524, nsv1115591
SamplesKWS2, KWS1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)dgv2188n106
Frequency
Sample Size2
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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