A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16199490



Internal ID3401279
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:51045575..51059645hg38UCSC Ensembl
Innerchr20:51045575..51059645hg38UCSC Ensembl
Outerchr20:51045075..51060145hg38UCSC Ensembl
chr20:49662112..49676182hg19UCSC Ensembl
Innerchr20:49662112..49676182hg19UCSC Ensembl
Outerchr20:49661612..49676682hg19UCSC Ensembl
Cytoband20q13.13
Allele length
AssemblyAllele length
hg3814071
hg1914071
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3646054
Supporting Variants
SamplesHG03049
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16199490
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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