A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16219072



Internal ID5765385
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:59980818..59997673hg38UCSC Ensembl
Innerchr20:59980846..59997645hg38UCSC Ensembl
Outerchr20:59980790..59997701hg38UCSC Ensembl
chr20:58555873..58572728hg19UCSC Ensembl
Innerchr20:58555901..58572700hg19UCSC Ensembl
Outerchr20:58555845..58572756hg19UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg3816856
hg1916856
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3646235
Supporting Variants
SamplesNA19137
Known GenesCDH26
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16219072
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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