A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3646046



Internal ID7032791
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16199374, essv16199371, essv16199375, essv16199366, essv16199368, essv16199378, essv16199369, essv16199379, essv16199370, essv16199367, essv16199373, essv16199376, essv16199377, essv16199372
SamplesNA20874, NA20882, NA21100, NA21128, HG03836, NA21130, HG04182, HG02786, NA21106, NA21119, HG02724, NA19072, NA21102, NA21120
Known GenesPARD6B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3646046
Frequency
Sample Size2504
Observed Gain0
Observed Loss14
Observed Complex0
Frequencyn/a


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