A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv134e55



Internal ID20126613
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:3793886..4106164hg38UCSC Ensembl
chr18:3793886..4106164hg19UCSC Ensembl
chr18:3783886..4096164hg18UCSC Ensembl
chr18:3783886..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 Variants
Supporting Variantsesv34571, esv34574
SamplesNA10846, NA12145
Known GenesDLGAP1, DLGAP1-AS3, DLGAP1-AS4, MIR6718
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Affymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)dgv134e55
Frequency
Sample Size771
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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