A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16107597



Internal ID6109413
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:386013..1119183hg38UCSC Ensembl
Innerchr20:386163..1119033hg38UCSC Ensembl
Outerchr20:385863..1119333hg38UCSC Ensembl
chr20:366657..1099826hg19UCSC Ensembl
Innerchr20:366807..1099676hg19UCSC Ensembl
Outerchr20:366507..1099976hg19UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg38733171
hg19733170
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3644952
Supporting Variants
SamplesNA19454
Known GenesANGPT4, CSNK2A1, FAM110A, PSMF1, RBCK1, RSPO4, SCRT2, SLC52A3, SRXN1, TBC1D20, TCF15, TRIB3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16107597
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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