A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3618599



Internal ID7005481
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:119366856..119371348hg38UCSC Ensembl
Innerchr8:119366861..119371343hg38UCSC Ensembl
Outerchr8:119366851..119371353hg38UCSC Ensembl
chr8:120379096..120383588hg19UCSC Ensembl
Innerchr8:120379101..120383583hg19UCSC Ensembl
Outerchr8:120379091..120383593hg19UCSC Ensembl
Cytoband8q24.12
Allele length
AssemblyAllele length
hg384493
hg194493
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13303870, essv13303871, essv13303869, essv13303868
SamplesNA20878, NA20861, NA21112, NA21091
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3618599
Frequency
Sample Size2504
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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