A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv879n140



Internal ID22811816
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:26495554..26495690hg38UCSC Ensembl
chr22:26891520..26891656hg19UCSC Ensembl
Cytoband22q12.1
Allele length
AssemblyAllele length
hg38137
hg19137
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3065305, nsv3053897
SamplesCHM1, NA12878
Known GenesTFIP11
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)dgv879n140
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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