A curated catalogue of human genomic structural variation




Variant Details

Variant: esv275291



Internal ID1511
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:36049464..36055593hg38UCSC Ensembl
Outerchr18:36048752..36056103hg38UCSC Ensembl
Innerchr18:33629427..33635556hg19UCSC Ensembl
Outerchr18:33628715..33636066hg19UCSC Ensembl
Innerchr18:31883425..31889554hg18UCSC Ensembl
Outerchr18:31882713..31890064hg18UCSC Ensembl
Cytoband18q12.2
Allele length
AssemblyAllele length
hg387352
hg197352
hg187352
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv2586162
Samples
Known GenesRPRD1A
MethodSNP array
AnalysisIdentification of germline Changes in Copy Number (IgC2N)
PlatformAffymetrix SNP 6.0
Comments
ReferenceBanerjee_et_al_2011
Pubmed ID21479260
Accession Number(s)esv275291
Frequency
Sample Size1250
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer