A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16196965



Internal ID6198781
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:47300557..47303253hg38UCSC Ensembl
Innerchr20:47300557..47303253hg38UCSC Ensembl
Outerchr20:47300402..47303475hg38UCSC Ensembl
chr20:45929301..45931997hg19UCSC Ensembl
Innerchr20:45929301..45931997hg19UCSC Ensembl
Outerchr20:45929146..45932219hg19UCSC Ensembl
Cytoband20q13.12
Allele length
AssemblyAllele length
hg382697
hg192697
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3645968
Supporting Variants
SamplesNA18628
Known GenesZMYND8
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16196965
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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