A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3646052



Internal ID7032797
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:50985966..50990758hg38UCSC Ensembl
Innerchr20:50986116..50990608hg38UCSC Ensembl
Outerchr20:50985816..50990908hg38UCSC Ensembl
chr20:49602503..49607295hg19UCSC Ensembl
Innerchr20:49602653..49607145hg19UCSC Ensembl
Outerchr20:49602353..49607445hg19UCSC Ensembl
Cytoband20q13.13
Allele length
AssemblyAllele length
hg384793
hg194793
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16199407
SamplesHG00614
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3646052
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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