A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16198890



Internal ID6200706
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:49610386..49857106hg38UCSC Ensembl
Innerchr20:49610536..49856956hg38UCSC Ensembl
Outerchr20:49610236..49857256hg38UCSC Ensembl
chr20:48226923..48473643hg19UCSC Ensembl
Innerchr20:48227073..48473493hg19UCSC Ensembl
Outerchr20:48226773..48473793hg19UCSC Ensembl
Cytoband20q13.13
Allele length
AssemblyAllele length
hg38246721
hg19246721
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3646017
Supporting Variants
SamplesHG01197
Known GenesB4GALT5, SLC9A8
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16198890
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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