A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3645000



Internal ID7031751
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:2217380..2220862hg38UCSC Ensembl
Innerchr20:2217414..2220828hg38UCSC Ensembl
Outerchr20:2217346..2220896hg38UCSC Ensembl
chr20:2198026..2201508hg19UCSC Ensembl
Innerchr20:2198060..2201474hg19UCSC Ensembl
Outerchr20:2197992..2201542hg19UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg383483
hg193483
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16119038
SamplesNA19129
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3645000
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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