A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13322982



Internal ID4524126
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:127961216..127967672hg38UCSC Ensembl
Innerchr8:127961224..127967665hg38UCSC Ensembl
Outerchr8:127961209..127967680hg38UCSC Ensembl
chr8:128973462..128979918hg19UCSC Ensembl
Innerchr8:128973470..128979911hg19UCSC Ensembl
Outerchr8:128973455..128979926hg19UCSC Ensembl
Cytoband8q24.21
Allele length
AssemblyAllele length
hg386457
hg196457
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3618787
Supporting Variants
SamplesHG04020
Known GenesPVT1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13322982
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