A curated catalogue of human genomic structural variation




Variant Details

Variant: esv274931



Internal ID1151
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:243602244..243603249hg38UCSC Ensembl
Outerchr1:243597073..243603684hg38UCSC Ensembl
Innerchr1:243765546..243766551hg19UCSC Ensembl
Outerchr1:243760375..243766986hg19UCSC Ensembl
Innerchr1:241832169..241833174hg18UCSC Ensembl
Outerchr1:241826998..241833609hg18UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg386612
hg196612
hg186612
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv2586087
Samples
Known GenesAKT3
MethodSNP array
AnalysisIdentification of germline Changes in Copy Number (IgC2N)
PlatformAffymetrix SNP 6.0
Comments
ReferenceBanerjee_et_al_2011
Pubmed ID21479260
Accession Number(s)esv274931
Frequency
Sample Size1250
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer