A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12643402



Internal ID3768420
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:167194805..167242469hg38UCSC Ensembl
chr6:167608293..167655957hg19UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg3847665
hg1947665
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3611652
Supporting Variants
SamplesHG03401
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12643402
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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