A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv802n140



Internal ID22811739
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:222895462..222897955hg38UCSC Ensembl
chr2:223760180..223762673hg19UCSC Ensembl
Cytoband2q36.1
Allele length
AssemblyAllele length
hg382494
hg192494
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3055160, nsv3049785
SamplesCHM1, NA12878
Known GenesACSL3
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)dgv802n140
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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