A curated catalogue of human genomic structural variation




Variant Details

Variant: esv274900



Internal ID1120
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:85722704..85722937hg38UCSC Ensembl
Outerchr4:85722589..85722977hg38UCSC Ensembl
Innerchr4:86643857..86644090hg19UCSC Ensembl
Outerchr4:86643742..86644130hg19UCSC Ensembl
Innerchr4:86862881..86863114hg18UCSC Ensembl
Outerchr4:86862766..86863154hg18UCSC Ensembl
Cytoband4q21.23
Allele length
AssemblyAllele length
hg38389
hg19389
hg18389
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv2585938, essv2585818
Samples
Known GenesARHGAP24
MethodSNP array
AnalysisIdentification of germline Changes in Copy Number (IgC2N)
PlatformAffymetrix SNP 6.0
Comments
ReferenceBanerjee_et_al_2011
Pubmed ID21479260
Accession Number(s)esv274900
Frequency
Sample Size1250
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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