A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6983465



Internal ID12629657
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:164787137..164882504hg38UCSC Ensembl
Innerchr2:165643647..165739014hg19UCSC Ensembl
Innerchr2:165351893..165447260hg18UCSC Ensembl
Innerchr2:165469154..165564521hg17UCSC Ensembl
Cytoband2q24.3
Allele length
AssemblyAllele length
hg3895368
hg1995368
hg1895368
hg1795368
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751832
Supporting Variants
SamplesBEC_658
Known GenesCOBLL1
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6983465
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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