A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16196812



Internal ID2255596
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:46498876..46510486hg38UCSC Ensembl
Innerchr20:46499026..46510336hg38UCSC Ensembl
Outerchr20:46498726..46510636hg38UCSC Ensembl
chr20:45127515..45139125hg19UCSC Ensembl
Innerchr20:45127665..45138975hg19UCSC Ensembl
Outerchr20:45127365..45139275hg19UCSC Ensembl
Cytoband20q13.12
Allele length
AssemblyAllele length
hg3811611
hg1911611
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3645954
Supporting Variants
SamplesHG02017
Known GenesZNF334
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16196812
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