A curated catalogue of human genomic structural variation




Variant Details

Variant: essv2585257



Internal ID346836
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 loss
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)essv2585257
Frequency
Sample Size1250
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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