A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2248n106



Internal ID20161605
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:37187206..37187519hg38UCSC Ensembl
chr20:35815609..35815922hg19UCSC Ensembl
Cytoband20q11.23
Allele length
AssemblyAllele length
hg38314
hg19314
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1111596, nsv1112016, nsv1126922
SamplesKWS2, KWS1
Known GenesRPN2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)dgv2248n106
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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