A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13266018



Internal ID2532612
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:96415028..96418063hg38UCSC Ensembl
Innerchr8:96415028..96418063hg38UCSC Ensembl
Outerchr8:96414528..96418563hg38UCSC Ensembl
chr8:97427256..97430291hg19UCSC Ensembl
Innerchr8:97427256..97430291hg19UCSC Ensembl
Outerchr8:97426756..97430791hg19UCSC Ensembl
Cytoband8q22.1
Allele length
AssemblyAllele length
hg383036
hg193036
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3618120
Supporting Variants
SamplesHG02252
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13266018
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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