A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6988618



Internal ID12628043
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:100580466..100709466hg38UCSC Ensembl
Innerchr3:100299310..100428310hg19UCSC Ensembl
Innerchr3:101782000..101911000hg18UCSC Ensembl
Innerchr3:101782000..101911000hg17UCSC Ensembl
Cytoband3q12.2
Allele length
AssemblyAllele length
hg38129001
hg19129001
hg18129001
hg17129001
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751966
Supporting Variants
SamplesBEC_536
Known GenesGPR128, TFG
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6988618
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