A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6124681



Internal ID9570530
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:62594697..62596639hg38UCSC Ensembl
Outerchr20:62594660..62596689hg38UCSC Ensembl
Innerchr20:61191904..61193846hg19UCSC Ensembl
Outerchr20:61191867..61193896hg19UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg382030
hg192030
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2667138
Supporting Variants
SamplesNA19129
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6124681
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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