A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3616752



Internal ID7003638
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:28927720..28932163hg38UCSC Ensembl
Innerchr8:28927720..28932163hg38UCSC Ensembl
Outerchr8:28927653..28932268hg38UCSC Ensembl
chr8:28785237..28789680hg19UCSC Ensembl
Innerchr8:28785237..28789680hg19UCSC Ensembl
Outerchr8:28785170..28789785hg19UCSC Ensembl
Cytoband8p21.1
Allele length
AssemblyAllele length
hg384444
hg194444
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13153448, essv13153449, essv13153450
SamplesNA19399, NA18988, NA18874
Known GenesHMBOX1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3616752
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer