A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv917n106



Internal ID20160274
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:132925914..133106014hg38UCSC Ensembl
chr12:133502500..133682600hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg38180101
hg19180101
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1136165, nsv1143723
SamplesKWS2, KWS1
Known GenesZNF140, ZNF26, ZNF605, ZNF84
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)dgv917n106
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer