A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6982522



Internal ID12627192
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:2441621..2583595hg38UCSC Ensembl
Innerchr3:2483305..2625279hg19UCSC Ensembl
Innerchr3:2458305..2600279hg18UCSC Ensembl
Innerchr3:2458305..2600279hg17UCSC Ensembl
Cytoband3p26.3
Allele length
AssemblyAllele length
hg38141975
hg19141975
hg18141975
hg17141975
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751996
Supporting Variants
SamplesBEC_462
Known GenesCNTN4
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6982522
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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