A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6977942



Internal ID12631677
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:3793890..4083560hg38UCSC Ensembl
Innerchr18:3793890..4083560hg19UCSC Ensembl
Innerchr18:3783890..4073560hg18UCSC Ensembl
Innerchr18:3783890..4073560hg17UCSC Ensembl
Cytoband18p11.31
Allele length
AssemblyAllele length
hg38289671
hg19289671
hg18289671
hg17289671
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)essv6977942
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