A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1728n106



Internal ID20161085
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:18697090..18699190hg38UCSC Ensembl
chr19:18807900..18810000hg19UCSC Ensembl
Cytoband19p13.11
Allele length
AssemblyAllele length
hg382101
hg192101
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1115542, nsv1110320
SamplesKWS1, KWS2
Known GenesCRTC1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)dgv1728n106
Frequency
Sample Size2
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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