A curated catalogue of human genomic structural variation




Variant Details

Variant: essv2585934



Internal ID347513
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:134082693..134084609hg38UCSC Ensembl
Outerchr6:134081758..134085271hg38UCSC Ensembl
Innerchr6:134403831..134405747hg19UCSC Ensembl
Outerchr6:134402896..134406409hg19UCSC Ensembl
Innerchr6:134445524..134447440hg18UCSC Ensembl
Outerchr6:134444589..134448102hg18UCSC Ensembl
Cytoband6q23.2
Allele length
AssemblyAllele length
hg383514
hg193514
hg183514
Variant TypeCNV gain
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv275229
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)essv2585934
Frequency
Sample Size1250
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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