A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv831n140



Internal ID22811768
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:34528008..34528359hg38UCSC Ensembl
chr20:33115813..33116164hg19UCSC Ensembl
Cytoband20q11.22
Allele length
AssemblyAllele length
hg38352
hg19352
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3053355, nsv3065279
SamplesCHM1, NA12878
Known GenesDYNLRB1
MethodSequencing
AnalysisCombines the NGS (e.g., Illumina) and SMS (e.g., Pacbio) for detecting large and small SVs (parameters the same as commit eee31f6 of https://bitbucket.org/xianfan/hybridassemblysv)
Platform
Comments
ReferenceFan_et_al_2017
Pubmed ID28104618
Accession Number(s)dgv831n140
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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