A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12422687



Internal ID876936
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:73830357..73837362hg38UCSC Ensembl
chr6:74540083..74547088hg19UCSC Ensembl
Cytoband6q13
Allele length
AssemblyAllele length
hg387006
hg197006
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3609519
Supporting Variants
SamplesHG00472
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12422687
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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