A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3618591



Internal ID7005473
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:119136418..119142141hg38UCSC Ensembl
chr8:120148657..120154380hg19UCSC Ensembl
Cytoband8q24.12
Allele length
AssemblyAllele length
hg385724
hg195724
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13302958, essv13302957
SamplesNA19456, HG02660
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3618591
Frequency
Sample Size2504
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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