A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3617125



Internal ID7004011
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:48742534..48754743hg38UCSC Ensembl
Innerchr8:48742534..48754743hg38UCSC Ensembl
Outerchr8:48742325..48754933hg38UCSC Ensembl
chr8:49655093..49667302hg19UCSC Ensembl
Innerchr8:49655093..49667302hg19UCSC Ensembl
Outerchr8:49654884..49667492hg19UCSC Ensembl
Cytoband8q11.21
Allele length
AssemblyAllele length
hg3812210
hg1912210
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13194910
SamplesHG01140
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3617125
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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