A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3618702



Internal ID7005584
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:124769808..124779792hg38UCSC Ensembl
Innerchr8:124770308..124779292hg38UCSC Ensembl
Outerchr8:124768808..124780792hg38UCSC Ensembl
chr8:125782050..125792034hg19UCSC Ensembl
Innerchr8:125782550..125791534hg19UCSC Ensembl
Outerchr8:125781050..125793034hg19UCSC Ensembl
Cytoband8q24.13
Allele length
AssemblyAllele length
hg389985
hg199985
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13312377
SamplesNA20587
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3618702
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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