A curated catalogue of human genomic structural variation




Variant Details

Variant: esv275359



Internal ID348265
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:156989142..157011984hg38UCSC Ensembl
Outerchr1:156986422..157014247hg38UCSC Ensembl
Innerchr1:156958934..156981776hg19UCSC Ensembl
Outerchr1:156956214..156984039hg19UCSC Ensembl
Innerchr1:155225558..155248400hg18UCSC Ensembl
Outerchr1:155222838..155250663hg18UCSC Ensembl
Cytoband1q23.1
Allele length
AssemblyAllele length
hg3827826
hg1927826
hg1827826
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv2585495, essv2585141
Samples
Known GenesARHGEF11
MethodSNP array
AnalysisIdentification of germline Changes in Copy Number (IgC2N)
PlatformAffymetrix SNP 6.0
Comments
ReferenceBanerjee_et_al_2011
Pubmed ID21479260
Accession Number(s)esv275359
Frequency
Sample Size1250
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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