A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6986139



Internal ID12626828
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:229809272..230128418hg38UCSC Ensembl
Innerchr2:230673988..230993134hg19UCSC Ensembl
Innerchr2:230382232..230701378hg18UCSC Ensembl
Innerchr2:230499493..230818639hg17UCSC Ensembl
Cytoband2q36.3
Allele length
AssemblyAllele length
hg38319147
hg19319147
hg18319147
hg17319147
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751843
Supporting Variants
SamplesBEC_414
Known GenesFBXO36, SLC16A14, TRIP12
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6986139
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