A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3646140



Internal ID7032885
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:54626035..54634469hg38UCSC Ensembl
Innerchr20:54626053..54634452hg38UCSC Ensembl
Outerchr20:54626018..54634487hg38UCSC Ensembl
chr20:53242574..53251008hg19UCSC Ensembl
Innerchr20:53242592..53250991hg19UCSC Ensembl
Outerchr20:53242557..53251026hg19UCSC Ensembl
Cytoband20q13.2
Allele length
AssemblyAllele length
hg388435
hg198435
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16207703
SamplesHG04118
Known GenesDOK5
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3646140
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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