A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16188552



Internal ID6190368
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:41766929..41986723hg38UCSC Ensembl
chr20:40395569..40615363hg19UCSC Ensembl
Cytoband20q12
Allele length
AssemblyAllele length
hg38219795
hg19219795
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3645849
Supporting Variants
SamplesNA19454
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16188552
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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