A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13234802



Internal ID2855598
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:76282792..76283843hg38UCSC Ensembl
Innerchr8:76282807..76283828hg38UCSC Ensembl
Outerchr8:76282777..76283858hg38UCSC Ensembl
chr8:77195027..77196078hg19UCSC Ensembl
Innerchr8:77195042..77196063hg19UCSC Ensembl
Outerchr8:77195012..77196093hg19UCSC Ensembl
Cytoband8q21.11
Allele length
AssemblyAllele length
hg381052
hg191052
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3617701
Supporting Variants
SamplesHG02522
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13234802
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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