A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16207690



Internal ID4346680
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:54230800..54233827hg38UCSC Ensembl
Innerchr20:54230812..54233815hg38UCSC Ensembl
Outerchr20:54230788..54233839hg38UCSC Ensembl
chr20:52847339..52850366hg19UCSC Ensembl
Innerchr20:52847351..52850354hg19UCSC Ensembl
Outerchr20:52847327..52850378hg19UCSC Ensembl
Cytoband20q13.2
Allele length
AssemblyAllele length
hg383028
hg193028
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3646136
Supporting Variants
SamplesHG03886
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16207690
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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