A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2244n106



Internal ID19020353
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:34653996..34656596hg38UCSC Ensembl
chr20:33241800..33244400hg19UCSC Ensembl
Cytoband20q11.22
Allele length
AssemblyAllele length
hg382601
hg192601
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1112788, nsv1145260, nsv1110529
SamplesKWS1, KWS2
Known GenesPIGU
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)dgv2244n106
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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