A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv294n140



Internal ID22811231
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:8864249..8865313hg38UCSC Ensembl
chr12:9016845..9017909hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg381065
hg191065
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3048920, nsv3062300
SamplesCHM1, NA12878
Known GenesA2ML1
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)dgv294n140
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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