A curated catalogue of human genomic structural variation




Variant Details

Variant: essv2585824



Internal ID347403
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:19757531..19757672hg38UCSC Ensembl
Outerchr2:19757243..19758247hg38UCSC Ensembl
Innerchr2:19957292..19957433hg19UCSC Ensembl
Outerchr2:19957004..19958008hg19UCSC Ensembl
Innerchr2:19820773..19820914hg18UCSC Ensembl
Outerchr2:19820485..19821489hg18UCSC Ensembl
Cytoband2p24.1
Allele length
AssemblyAllele length
hg381005
hg191005
hg181005
Variant TypeCNV gain
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv275217
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)essv2585824
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