A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv883n106



Internal ID20160240
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:121851677..121852028hg38UCSC Ensembl
chr12:122289583..122289934hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg38352
hg19352
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1123256, nsv1122775
SamplesKWS1, KWS2
Known GenesHPD
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)dgv883n106
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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