A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12540859



Internal ID6457279
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:127345271..127348902hg38UCSC Ensembl
chr6:127666416..127670047hg19UCSC Ensembl
Cytoband6q22.33
Allele length
AssemblyAllele length
hg383632
hg193632
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3610720
Supporting Variants
SamplesNA20515
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12540859
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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