A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3608244



Internal ID6995174
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:18497585..18535040hg38UCSC Ensembl
chr6:18497816..18535271hg19UCSC Ensembl
Cytoband6p22.3
Allele length
AssemblyAllele length
hg3837456
hg1937456
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12210734
SamplesHG01924
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3608244
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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