A curated catalogue of human genomic structural variation




Variant Details

Variant: essv2585210



Internal ID346789
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:60492950..60494452hg38UCSC Ensembl
Outerchr18:60488429..60494722hg38UCSC Ensembl
Innerchr18:58160183..58161685hg19UCSC Ensembl
Outerchr18:58155662..58161955hg19UCSC Ensembl
Innerchr18:56311163..56312665hg18UCSC Ensembl
Outerchr18:56306642..56312935hg18UCSC Ensembl
Cytoband18q21.32
Allele length
AssemblyAllele length
hg386294
hg196294
hg186294
Variant TypeCNV loss
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv275161
Supporting Variants
Samples
Known Genes
MethodSNP array
AnalysisIdentification of germline Changes in Copy Number (IgC2N)
PlatformAffymetrix SNP 6.0
Comments
ReferenceBanerjee_et_al_2011
Pubmed ID21479260
Accession Number(s)essv2585210
Frequency
Sample Size1250
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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