A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3617248



Internal ID7004134
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:54041791..54042327hg38UCSC Ensembl
Innerchr8:54041841..54042277hg38UCSC Ensembl
Outerchr8:54041714..54042404hg38UCSC Ensembl
chr8:54954351..54954887hg19UCSC Ensembl
Innerchr8:54954401..54954837hg19UCSC Ensembl
Outerchr8:54954274..54954964hg19UCSC Ensembl
Cytoband8q11.23
Allele length
AssemblyAllele length
hg38537
hg19537
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13203253
SamplesHG01133
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3617248
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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