A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv882n106



Internal ID20160239
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:121750394..121751794hg38UCSC Ensembl
chr12:122188300..122189700hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg381401
hg191401
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1143576, nsv1112621
SamplesKWS1, KWS2
Known GenesTMEM120B
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)dgv882n106
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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