A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12363363



Internal ID5434456
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:55616133..55628299hg38UCSC Ensembl
chr6:55480931..55493097hg19UCSC Ensembl
Cytoband6p12.1
Allele length
AssemblyAllele length
hg3812167
hg1912167
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3609074
Supporting Variants
SamplesNA18957
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12363363
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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