A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13198147



Internal ID4913734
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:50817538..50971635hg38UCSC Ensembl
chr8:51730098..51884195hg19UCSC Ensembl
Cytoband8q11.21
Allele length
AssemblyAllele length
hg38154098
hg19154098
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3617185
Supporting Variants
SamplesNA12750
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13198147
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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