A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6988853



Internal ID12636873
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:2002762..2380637hg38UCSC Ensembl
Innerchr3:2044446..2422321hg19UCSC Ensembl
Innerchr3:2019446..2397321hg18UCSC Ensembl
Innerchr3:2019446..2397321hg17UCSC Ensembl
Cytoband3p26.3
Allele length
AssemblyAllele length
hg38377876
hg19377876
hg18377876
hg17377876
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)essv6988853
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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