A curated catalogue of human genomic structural variation




Variant Details

Variant: esv274992



Internal ID1212
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:31975932..31977154hg38UCSC Ensembl
Outerchr8:31975117..31982137hg38UCSC Ensembl
Innerchr8:31833448..31834670hg19UCSC Ensembl
Outerchr8:31832633..31839653hg19UCSC Ensembl
Innerchr8:31952990..31954212hg18UCSC Ensembl
Outerchr8:31952175..31959195hg18UCSC Ensembl
Cytoband8p12
Allele length
AssemblyAllele length
hg387021
hg197021
hg187021
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv2585208, essv2585306
Samples
Known GenesNRG1
MethodSNP array
AnalysisIdentification of germline Changes in Copy Number (IgC2N)
PlatformAffymetrix SNP 6.0
Comments
ReferenceBanerjee_et_al_2011
Pubmed ID21479260
Accession Number(s)esv274992
Frequency
Sample Size1250
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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