A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16218938



Internal ID6032374
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:58140730..58142512hg38UCSC Ensembl
Innerchr20:58140783..58142460hg38UCSC Ensembl
Outerchr20:58140678..58142565hg38UCSC Ensembl
chr20:56715786..56717568hg19UCSC Ensembl
Innerchr20:56715839..56717516hg19UCSC Ensembl
Outerchr20:56715734..56717621hg19UCSC Ensembl
Cytoband20q13.32
Allele length
AssemblyAllele length
hg381783
hg191783
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3646222
Supporting Variants
SamplesNA19438
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16218938
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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