A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6977943



Internal ID12631678
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:3794119..4106164hg38UCSC Ensembl
Innerchr18:3794119..4106164hg19UCSC Ensembl
Innerchr18:3784119..4096164hg18UCSC Ensembl
Innerchr18:3784119..4096164hg17UCSC Ensembl
Cytoband18p11.31
Allele length
AssemblyAllele length
hg38312046
hg19312046
hg18312046
hg17312046
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34574
Supporting Variants
SamplesNA10846
Known GenesDLGAP1, DLGAP1-AS3, DLGAP1-AS4, MIR6718
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6977943
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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