A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3610323



Internal ID6997240
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:108468302..108471876hg38UCSC Ensembl
chr6:108789505..108793079hg19UCSC Ensembl
Cytoband6q21
Allele length
AssemblyAllele length
hg383575
hg193575
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12499622
SamplesHG03247
Known GenesLACE1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3610323
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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