A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv747n106



Internal ID20160104
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:919634..920449hg38UCSC Ensembl
chr12:1028800..1029615hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg38816
hg19816
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1135320, nsv1135664, nsv1129908
SamplesKWS1, KWS2
Known GenesRAD52
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)dgv747n106
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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