A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2656301



Internal ID8719500
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:26991709..26992226hg38UCSC Ensembl
Innerchr18:24571673..24572190hg19UCSC Ensembl
Innerchr18:22825671..22826188hg18UCSC Ensembl
Cytoband18q11.2
Allele length
AssemblyAllele length
hg38518
hg19518
hg18518
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv10e198
Supporting Variantsessv5395467
Samples2342 [37]
Known GenesCHST9
MethodMerging
AnalysisCalls merged from CNV Partition and PennCV algorithms
PlatformMerging
Comments
ReferenceChia_et_al_2012
Pubmed ID23635498
Accession Number(s)esv2656301
Frequency
Sample Size64
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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