A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16126302



Internal ID6320102
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:5075356..5081346hg38UCSC Ensembl
Innerchr20:5075368..5081335hg38UCSC Ensembl
Outerchr20:5075345..5081358hg38UCSC Ensembl
chr20:5056002..5061992hg19UCSC Ensembl
Innerchr20:5056014..5061981hg19UCSC Ensembl
Outerchr20:5055991..5062004hg19UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg385991
hg195991
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3645091
Supporting Variants
SamplesNA19917
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16126302
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