A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2202n106



Internal ID19020311
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:2692454..2693454hg38UCSC Ensembl
chr20:2673100..2674100hg19UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg381001
hg191001
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1136324, nsv1118904
SamplesKWS1, KWS2
Known GenesEBF4
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)dgv2202n106
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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