A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16134014



Internal ID4536576
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:7948195..7952127hg38UCSC Ensembl
Innerchr20:7948195..7952127hg38UCSC Ensembl
Outerchr20:7947965..7952182hg38UCSC Ensembl
chr20:7928842..7932774hg19UCSC Ensembl
Innerchr20:7928842..7932774hg19UCSC Ensembl
Outerchr20:7928612..7932829hg19UCSC Ensembl
Cytoband20p12.3
Allele length
AssemblyAllele length
hg383933
hg193933
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3645154
Supporting Variants
SamplesHG04029
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16134014
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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