A curated catalogue of human genomic structural variation




Variant Details

Variant: esv34574



Internal ID12643925
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:3793886..4106164hg38UCSC Ensembl
Innerchr18:3793886..4106164hg19UCSC Ensembl
Innerchr18:3783886..4096164hg18UCSC Ensembl
Innerchr18:3783886..4096164hg17UCSC Ensembl
Cytoband18p11.31
Allele length
AssemblyAllele length
hg38312279
hg19312279
hg18312279
hg17312279
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv134e55
Supporting Variantsessv6977943, essv6977945, essv6977944, essv6977942, essv6990177
SamplesNA10846
Known GenesDLGAP1, DLGAP1-AS3, DLGAP1-AS4, MIR6718
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Affymetrix Mapping 250K Sty2 SNP Array
CommentsSample level SV from stringent call set
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv34574
Frequency
Sample Size771
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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