A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6982630



Internal ID12628607
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:187119920..188100311hg38UCSC Ensembl
Innerchr4:188041074..189021465hg19UCSC Ensembl
Innerchr4:188278068..189258459hg18UCSC Ensembl
Innerchr4:188416223..189396614hg17UCSC Ensembl
Cytoband4q35.2
Allele length
AssemblyAllele length
hg38980392
hg19980392
hg18980392
hg17980392
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2752041
Supporting Variants
SamplesBEC_573
Known GenesLOC339975, TRIML2, ZFP42
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6982630
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