A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2656305



Internal ID8372809
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:4177454..4305905hg38UCSC Ensembl
Innerchr18:4177454..4305905hg19UCSC Ensembl
Innerchr18:4167454..4295905hg18UCSC Ensembl
Cytoband18p11.31
Allele length
AssemblyAllele length
hg38128452
hg19128452
hg18128452
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5395430
Samples2354 [48]
Known GenesDLGAP1, DLGAP1-AS5
MethodMerging
AnalysisCalls merged from CNV Partition and PennCV algorithms
PlatformMerging
Comments
ReferenceChia_et_al_2012
Pubmed ID23635498
Accession Number(s)esv2656305
Frequency
Sample Size64
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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