A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13246009



Internal ID1094544
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:85045453..85058650hg38UCSC Ensembl
Innerchr8:85045462..85058641hg38UCSC Ensembl
Outerchr8:85045444..85058659hg38UCSC Ensembl
chr8:85957688..85970885hg19UCSC Ensembl
Innerchr8:85957697..85970876hg19UCSC Ensembl
Outerchr8:85957679..85970894hg19UCSC Ensembl
Cytoband8q21.2
Allele length
AssemblyAllele length
hg3813198
hg1913198
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3617871
Supporting Variants
SamplesHG00729
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13246009
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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