A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1219n140



Internal ID22812156
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:179693351..179693485hg38UCSC Ensembl
chr5:179120352..179120486hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg38135
hg19135
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3058037, nsv3049971
SamplesCHM1, NA12878
Known Genes
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)dgv1219n140
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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