A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1181e1



Internal ID6308979
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:46532812..46874151hg19UCSC Ensembl
chr2:46386316..46727655hg18UCSC Ensembl
chr2:46444463..46785802hg17UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
hg17n/a
Variant TypeCNV Complex
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusM
Merged Variants
Supporting Variantsessv20783, esv815
SamplesNA12146
Known GenesATP6V1E2, CRIPT, EPAS1, LOC388946, PIGF, RHOQ
Method
Analysis
Platform
Comments
ReferenceRedon et al 2006
Pubmed ID17122850
Accession Number(s)dgv1181e1
Frequency
Sample Size271
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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