A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv146e55



Internal ID22761096
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:10201342..10244176hg38UCSC Ensembl
chr2:10341468..10384302hg19UCSC Ensembl
chr2:10258919..10301753hg18UCSC Ensembl
chr2:10292066..10334900hg17UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg3842835
hg1942835
hg1842835
hg1742835
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv34981, esv35171
SamplesNA10857, NA12043
Known GenesC2orf48
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)dgv146e55
Frequency
Sample Size771
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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