A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3645969



Internal ID7032715
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:47468592..47473880hg38UCSC Ensembl
Innerchr20:47468625..47473848hg38UCSC Ensembl
Outerchr20:47468560..47473913hg38UCSC Ensembl
chr20:46097336..46102624hg19UCSC Ensembl
Innerchr20:46097369..46102592hg19UCSC Ensembl
Outerchr20:46097304..46102657hg19UCSC Ensembl
Cytoband20q13.12
Allele length
AssemblyAllele length
hg385289
hg195289
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16196966
SamplesHG01796
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3645969
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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