A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13203268



Internal ID2535586
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:54168242..54169306hg38UCSC Ensembl
Innerchr8:54168259..54169289hg38UCSC Ensembl
Outerchr8:54168225..54169323hg38UCSC Ensembl
chr8:55080802..55081866hg19UCSC Ensembl
Innerchr8:55080819..55081849hg19UCSC Ensembl
Outerchr8:55080785..55081883hg19UCSC Ensembl
Cytoband8q11.23
Allele length
AssemblyAllele length
hg381065
hg191065
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3617250
Supporting Variants
SamplesHG02253
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13203268
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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