A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13203168



Internal ID2649840
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:53339168..53366998hg38UCSC Ensembl
chr8:54251728..54279558hg19UCSC Ensembl
Cytoband8q11.23
Allele length
AssemblyAllele length
hg3827831
hg1927831
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3617238
Supporting Variants
SamplesHG02343
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13203168
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