A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv795n140



Internal ID22811732
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:211686522..211686819hg38UCSC Ensembl
chr2:212551247..212551544hg19UCSC Ensembl
Cytoband2q34
Allele length
AssemblyAllele length
hg38298
hg19298
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3049780, nsv3059386
SamplesCHM1, NA12878
Known GenesERBB4
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)dgv795n140
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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