A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2034n106



Internal ID22795862
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:130470127..130471527hg38UCSC Ensembl
chr2:131227700..131229100hg19UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg381401
hg191401
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1112769, nsv1126564
SamplesKWS2, KWS1
Known GenesPOTEI
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)dgv2034n106
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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