A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv743n106



Internal ID22794571
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:43040..45739hg38UCSC Ensembl
chr12:60000..62700hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg382700
hg192701
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1115423, nsv1110201
SamplesKWS2, KWS1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)dgv743n106
Frequency
Sample Size2
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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