A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13231341



Internal ID1839237
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:74482366..74486644hg38UCSC Ensembl
Innerchr8:74482366..74486644hg38UCSC Ensembl
Outerchr8:74481866..74487144hg38UCSC Ensembl
chr8:75394601..75398879hg19UCSC Ensembl
Innerchr8:75394601..75398879hg19UCSC Ensembl
Outerchr8:75394101..75399379hg19UCSC Ensembl
Cytoband8q21.11
Allele length
AssemblyAllele length
hg384279
hg194279
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3617662
Supporting Variants
SamplesHG01707
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13231341
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