A curated catalogue of human genomic structural variation




Variant Details

Variant: esv275430



Internal ID1650
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:13015946..13020122hg38UCSC Ensembl
Outerchr19:13015145..13020565hg38UCSC Ensembl
Innerchr19:13126760..13130936hg19UCSC Ensembl
Outerchr19:13125959..13131379hg19UCSC Ensembl
Innerchr19:12987760..12991936hg18UCSC Ensembl
Outerchr19:12986959..12992379hg18UCSC Ensembl
Cytoband19p13.13
Allele length
AssemblyAllele length
hg385421
hg195421
hg185421
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv2585409, essv2585698
Samples
Known GenesNFIX
MethodSNP array
AnalysisIdentification of germline Changes in Copy Number (IgC2N)
PlatformAffymetrix SNP 6.0
Comments
ReferenceBanerjee_et_al_2011
Pubmed ID21479260
Accession Number(s)esv275430
Frequency
Sample Size1250
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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