A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16196158



Internal ID2159769
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:45442074..45447750hg38UCSC Ensembl
Innerchr20:45442101..45447724hg38UCSC Ensembl
Outerchr20:45442048..45447777hg38UCSC Ensembl
chr20:44070714..44076390hg19UCSC Ensembl
Innerchr20:44070741..44076364hg19UCSC Ensembl
Outerchr20:44070688..44076417hg19UCSC Ensembl
Cytoband20q13.12
Allele length
AssemblyAllele length
hg385677
hg195677
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3645929
Supporting Variants
SamplesHG01951
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16196158
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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