A curated catalogue of human genomic structural variation




Variant Details

Variant: esv274959



Internal ID1179
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:965819..965855hg38UCSC Ensembl
Outerchr20:961022..966160hg38UCSC Ensembl
Innerchr20:946462..946498hg19UCSC Ensembl
Outerchr20:941665..946803hg19UCSC Ensembl
Innerchr20:894462..894498hg18UCSC Ensembl
Outerchr20:889665..894803hg18UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg385139
hg195139
hg185139
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv2586093
Samples
Known GenesRSPO4
MethodSNP array
AnalysisIdentification of germline Changes in Copy Number (IgC2N)
PlatformAffymetrix SNP 6.0
Comments
ReferenceBanerjee_et_al_2011
Pubmed ID21479260
Accession Number(s)esv274959
Frequency
Sample Size1250
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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