A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16175343



Internal ID6177159
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:33177873..33190004hg38UCSC Ensembl
Innerchr20:33177873..33190004hg38UCSC Ensembl
Outerchr20:33177373..33190504hg38UCSC Ensembl
chr20:31765679..31777810hg19UCSC Ensembl
Innerchr20:31765679..31777810hg19UCSC Ensembl
Outerchr20:31765179..31778310hg19UCSC Ensembl
Cytoband20q11.21
Allele length
AssemblyAllele length
hg3812132
hg1912132
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3645678
Supporting Variants
SamplesNA20763
Known GenesBPIFA2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16175343
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer