A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6990177



Internal ID12631704
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:3793886..4083561hg38UCSC Ensembl
Innerchr18:3793886..4083561hg19UCSC Ensembl
Innerchr18:3783886..4073561hg18UCSC Ensembl
Innerchr18:3783886..4073561hg17UCSC Ensembl
Cytoband18p11.31
Allele length
AssemblyAllele length
hg38289676
hg19289676
hg18289676
hg17289676
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 Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6990177
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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