A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1884n106



Internal ID20161241
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:32999333..33002233hg38UCSC Ensembl
chr2:33224400..33227300hg19UCSC Ensembl
Cytoband2p22.3
Allele length
AssemblyAllele length
hg382901
hg192901
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1110416, nsv1126555, nsv1138765
SamplesKWS1, KWS2
Known GenesLTBP1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)dgv1884n106
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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