A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2677365



Internal ID9596784
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:243497357..243497878hg38UCSC Ensembl
Outerchr1:243497320..243497928hg38UCSC Ensembl
Innerchr1:243660659..243661180hg19UCSC Ensembl
Outerchr1:243660622..243661230hg19UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg38609
hg19609
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6439561
SamplesNA19712
Known GenesAKT3, SDCCAG8
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2677365
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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