A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv736n140



Internal ID22811673
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:101358752..101359085hg38UCSC Ensembl
chr2:101975214..101975547hg19UCSC Ensembl
Cytoband2q11.2
Allele length
AssemblyAllele length
hg38334
hg19334
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3053191, nsv3057290
SamplesCHM1, NA12878
Known GenesCREG2
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)dgv736n140
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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