A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6987693



Internal ID12636896
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:2002762..2345148hg38UCSC Ensembl
Innerchr3:2044446..2386832hg19UCSC Ensembl
Innerchr3:2019446..2361832hg18UCSC Ensembl
Innerchr3:2019446..2361832hg17UCSC Ensembl
Cytoband3p26.3
Allele length
AssemblyAllele length
hg38342387
hg19342387
hg18342387
hg17342387
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)essv6987693
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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