A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv236n140



Internal ID22811173
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:43888040..43888382hg38UCSC Ensembl
chr11:43909590..43909932hg19UCSC Ensembl
Cytoband11p11.2
Allele length
AssemblyAllele length
hg38343
hg19343
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3057689, nsv3061640
SamplesCHM1, NA12878
Known GenesALKBH3
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)dgv236n140
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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