A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv722n106



Internal ID22794550
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:110584967..110585060hg38UCSC Ensembl
chr11:110455691..110455784hg19UCSC Ensembl
Cytoband11q23.1
Allele length
AssemblyAllele length
hg3894
hg1994
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1129524, nsv1140489
SamplesKWS2, KWS1
Known GenesARHGAP20
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)dgv722n106
Frequency
Sample Size2
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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