A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3049780



Internal ID21181829
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 Variantsdgv795n140
Supporting Variantsnssv14026051
SamplesNA12878
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)nsv3049780
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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