A curated catalogue of human genomic structural variation




Variant Details

Variant: essv2585187



Internal ID346766
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:88654335..88659551hg38UCSC Ensembl
Outerchr13:88650570..88661590hg38UCSC Ensembl
Innerchr13:89306589..89311805hg19UCSC Ensembl
Outerchr13:89302824..89313844hg19UCSC Ensembl
Innerchr13:88104590..88109806hg18UCSC Ensembl
Outerchr13:88100825..88111845hg18UCSC Ensembl
Cytoband13q31.2
Allele length
AssemblyAllele length
hg3811021
hg1911021
hg1811021
Variant TypeCNV gain
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv275053
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)essv2585187
Frequency
Sample Size1250
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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