A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3646041



Internal ID6686100
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:50114564..50116213hg38UCSC Ensembl
Innerchr20:50114568..50116209hg38UCSC Ensembl
Outerchr20:50114560..50116217hg38UCSC Ensembl
chr20:48731101..48732750hg19UCSC Ensembl
Innerchr20:48731105..48732746hg19UCSC Ensembl
Outerchr20:48731097..48732754hg19UCSC Ensembl
Cytoband20q13.13
Allele length
AssemblyAllele length
hg381650
hg191650
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16199005, essv16199006
SamplesNA21124, NA21115
Known GenesTMEM189-UBE2V1, UBE2V1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3646041
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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