A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv876n106



Internal ID22794704
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:116305753..116305923hg38UCSC Ensembl
chr12:116743558..116743728hg19UCSC Ensembl
Cytoband12q24.21
Allele length
AssemblyAllele length
hg38171
hg19171
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1129912, nsv1111896
SamplesKWS2
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)dgv876n106
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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