A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3617340



Internal ID6657536
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:58566392..58621651hg38UCSC Ensembl
chr8:59478951..59534210hg19UCSC Ensembl
Cytoband8q12.1
Allele length
AssemblyAllele length
hg3855260
hg1955260
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13206216
SamplesHG02356
Known GenesNSMAF, SDCBP
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3617340
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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