A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6984818



Internal ID12636883
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:2002766..2345146hg38UCSC Ensembl
Innerchr3:2044450..2386830hg19UCSC Ensembl
Innerchr3:2019450..2361830hg18UCSC Ensembl
Innerchr3:2019450..2361830hg17UCSC Ensembl
Cytoband3p26.3
Allele length
AssemblyAllele length
hg38342381
hg19342381
hg18342381
hg17342381
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751990
Supporting Variants
SamplesSPC_181
Known GenesCNTN4, CNTN4-AS2
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6984818
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