A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13246111



Internal ID2748136
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:85602471..85651257hg38UCSC Ensembl
Innerchr8:85602486..85651243hg38UCSC Ensembl
Outerchr8:85602457..85651272hg38UCSC Ensembl
chr8:86514700..86563486hg19UCSC Ensembl
Innerchr8:86514715..86563472hg19UCSC Ensembl
Outerchr8:86514686..86563501hg19UCSC Ensembl
Cytoband8q21.2
Allele length
AssemblyAllele length
hg3848787
hg1948787
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3617886
Supporting Variants
SamplesHG02410
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13246111
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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