A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv893n140



Internal ID22811830
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:3831533..3831863hg38UCSC Ensembl
chr3:3873217..3873547hg19UCSC Ensembl
Cytoband3p26.2
Allele length
AssemblyAllele length
hg38331
hg19331
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3053971, nsv3055726
SamplesCHM1, NA12878
Known GenesLRRN1
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)dgv893n140
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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