A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2664030



Internal ID9583449
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:1327113..1337138hg38UCSC Ensembl
Outerchr20:1327076..1337188hg38UCSC Ensembl
Innerchr20:1307757..1317782hg19UCSC Ensembl
Outerchr20:1307720..1317832hg19UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg3810113
hg1910113
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5787846
SamplesHG00473
Known GenesFKBP1A-SDCBP2, SDCBP2, SDCBP2-AS1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2664030
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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