A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3645020



Internal ID6685083
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:2816405..2926274hg38UCSC Ensembl
Innerchr20:2816555..2926124hg38UCSC Ensembl
Outerchr20:2816255..2926424hg38UCSC Ensembl
chr20:2797051..2906920hg19UCSC Ensembl
Innerchr20:2797201..2906770hg19UCSC Ensembl
Outerchr20:2796901..2907070hg19UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg38109870
hg19109870
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16121186
SamplesNA19454
Known GenesPCED1A, PTPRA, TMEM239, VPS16
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3645020
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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