A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16122289



Internal ID6124105
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:3898170..3904490hg38UCSC Ensembl
Innerchr20:3898183..3904477hg38UCSC Ensembl
Outerchr20:3898157..3904503hg38UCSC Ensembl
chr20:3878817..3885137hg19UCSC Ensembl
Innerchr20:3878830..3885124hg19UCSC Ensembl
Outerchr20:3878804..3885150hg19UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg386321
hg196321
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3645059
Supporting Variants
SamplesNA20847
Known GenesPANK2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16122289
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