A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3609071



Internal ID6995994
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:55599598..55612161hg38UCSC Ensembl
chr6:55464396..55476959hg19UCSC Ensembl
Cytoband6p12.1
Allele length
AssemblyAllele length
hg3812564
hg1912564
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12363354, essv12363355
SamplesHG03668, HG03907
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3609071
Frequency
Sample Size2504
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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