A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv875n106



Internal ID20160232
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:116276595..116278195hg38UCSC Ensembl
chr12:116714400..116716000hg19UCSC Ensembl
Cytoband12q24.21
Allele length
AssemblyAllele length
hg381601
hg191601
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1131046, nsv1143573
SamplesKWS1, KWS2
Known GenesMED13L
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)dgv875n106
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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