A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16199492



Internal ID746909
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:51117640..51119041hg38UCSC Ensembl
Innerchr20:51117640..51119041hg38UCSC Ensembl
Outerchr20:51117521..51119160hg38UCSC Ensembl
chr20:49734177..49735578hg19UCSC Ensembl
Innerchr20:49734177..49735578hg19UCSC Ensembl
Outerchr20:49734058..49735697hg19UCSC Ensembl
Cytoband20q13.13
Allele length
AssemblyAllele length
hg381402
hg191402
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3646056
Supporting Variants
SamplesHG00351
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16199492
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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