A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6990271



Internal ID12632283
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:3794119..4083561hg38UCSC Ensembl
Innerchr18:3794119..4083561hg19UCSC Ensembl
Innerchr18:3784119..4073561hg18UCSC Ensembl
Innerchr18:3784119..4073561hg17UCSC Ensembl
Cytoband18p11.31
Allele length
AssemblyAllele length
hg38289443
hg19289443
hg18289443
hg17289443
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34571
Supporting Variants
SamplesNA12145
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)essv6990271
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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