A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16179856



Internal ID6181672
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:36801699..36878314hg38UCSC Ensembl
Innerchr20:36801849..36878164hg38UCSC Ensembl
Outerchr20:36801549..36878464hg38UCSC Ensembl
chr20:35430102..35506717hg19UCSC Ensembl
Innerchr20:35430252..35506567hg19UCSC Ensembl
Outerchr20:35429952..35506867hg19UCSC Ensembl
Cytoband20q11.23
Allele length
AssemblyAllele length
hg3876616
hg1976616
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3645741
Supporting Variants
SamplesHG03012
Known GenesSOGA1, TLDC2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16179856
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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