A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv149e55



Internal ID6310661
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:46605659..46818992hg19UCSC Ensembl
chr2:46459163..46672496hg18UCSC Ensembl
chr2:46517310..46730643hg17UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
hg17n/a
Variant TypeCNV Loss
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusM
Merged Variants
Supporting Variantsesv34650, esv34937
SamplesNA10847, NA12146
Known GenesATP6V1E2, EPAS1, LOC388946, PIGF, RHOQ
Method
Analysis
Platform
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)dgv149e55
Frequency
Sample Size771
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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