A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16199367



Internal ID3164963
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:50741192..50744442hg38UCSC Ensembl
Innerchr20:50741192..50744442hg38UCSC Ensembl
Outerchr20:50740900..50744651hg38UCSC Ensembl
chr20:49357729..49360979hg19UCSC Ensembl
Innerchr20:49357729..49360979hg19UCSC Ensembl
Outerchr20:49357437..49361188hg19UCSC Ensembl
Cytoband20q13.13
Allele length
AssemblyAllele length
hg383251
hg193251
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3646046
Supporting Variants
SamplesHG02786
Known GenesPARD6B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16199367
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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