A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13315990



Internal ID2286902
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:125281373..125301415hg38UCSC Ensembl
chr8:126293615..126313657hg19UCSC Ensembl
Cytoband8q24.13
Allele length
AssemblyAllele length
hg3820043
hg1920043
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3618714
Supporting Variants
SamplesHG02047
Known GenesNSMCE2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13315990
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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