A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13226500



Internal ID2897059
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:74188439..74215488hg38UCSC Ensembl
Innerchr8:74188452..74215476hg38UCSC Ensembl
Outerchr8:74188427..74215501hg38UCSC Ensembl
chr8:75100674..75127723hg19UCSC Ensembl
Innerchr8:75100687..75127711hg19UCSC Ensembl
Outerchr8:75100662..75127736hg19UCSC Ensembl
Cytoband8q21.11
Allele length
AssemblyAllele length
hg3827050
hg1927050
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3617651
Supporting Variants
SamplesHG02570
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13226500
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