A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv600n140



Internal ID22811537
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:2997379..2997461hg38UCSC Ensembl
chr18:2997377..2997459hg19UCSC Ensembl
Cytoband18p11.31
Allele length
AssemblyAllele length
hg3883
hg1983
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3048026, nsv3055099
SamplesCHM1, NA12878
Known GenesLPIN2
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)dgv600n140
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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