A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2089n106



Internal ID22795917
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:169029711..169030046hg38UCSC Ensembl
chr2:169886221..169886556hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg38336
hg19336
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1119031, nsv1112633
SamplesKWS1
Known GenesABCB11
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)dgv2089n106
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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