A curated catalogue of human genomic structural variation




Variant Details

Variant: esv275281



Internal ID348187
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:845067..845446hg38UCSC Ensembl
Outerchr7:843010..850179hg38UCSC Ensembl
Innerchr7:884704..885083hg19UCSC Ensembl
Outerchr7:882647..889816hg19UCSC Ensembl
Innerchr7:851230..851609hg18UCSC Ensembl
Outerchr7:849173..856342hg18UCSC Ensembl
Cytoband7p22.3
Allele length
AssemblyAllele length
hg387170
hg197170
hg187170
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv2585773, essv2585678
Samples
Known GenesSUN1
MethodSNP array
AnalysisIdentification of germline Changes in Copy Number (IgC2N)
PlatformAffymetrix SNP 6.0
Comments
ReferenceBanerjee_et_al_2011
Pubmed ID21479260
Accession Number(s)esv275281
Frequency
Sample Size1250
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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