A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv746n140



Internal ID22811683
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:127979505..127979594hg38UCSC Ensembl
chr2:128737079..128737168hg19UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg3890
hg1990
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3059363, nsv3049734
SamplesCHM1, NA12878
Known GenesSAP130
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)dgv746n140
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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