A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3610720



Internal ID6997637
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12540860, essv12540859, essv12540858
SamplesNA20515, HG02586, NA20785
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3610720
Frequency
Sample Size2504
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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