A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3618720



Internal ID6658914
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:125334054..125563487hg38UCSC Ensembl
chr8:126346296..126575731hg19UCSC Ensembl
Cytoband8q24.13
Allele length
AssemblyAllele length
hg38229434
hg19229436
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13316174
SamplesHG02047
Known GenesNSMCE2, TRIB1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3618720
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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