A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3618716



Internal ID7005598
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:125296158..125314124hg38UCSC Ensembl
chr8:126308400..126326366hg19UCSC Ensembl
Cytoband8q24.13
Allele length
AssemblyAllele length
hg3817967
hg1917967
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13315992
SamplesHG02047
Known GenesNSMCE2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3618716
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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