A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16207703



Internal ID4598833
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3646140
Supporting Variants
SamplesHG04118
Known GenesDOK5
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16207703
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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