A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv151e55



Internal ID20126630
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:64085008..64294232hg38UCSC Ensembl
chr2:64312142..64521366hg19UCSC Ensembl
chr2:64165646..64374870hg18UCSC Ensembl
chr2:64223793..64433017hg17UCSC Ensembl
Cytoband2p14
Allele length
AssemblyAllele length
hg38209225
hg19209225
hg18209225
hg17209225
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv34698, esv34955
SamplesNA18500, NA18502
Known GenesLINC00309, PELI1
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Affymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)dgv151e55
Frequency
Sample Size771
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer