A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13093733



Internal ID3095549
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:8851973..8899115hg38UCSC Ensembl
chr8:8709483..8756625hg19UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg3847143
hg1947143
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3616150
Supporting Variants
SamplesHG01521
Known GenesMFHAS1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13093733
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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