A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13315994



Internal ID2660891
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:125297362..125317910hg38UCSC Ensembl
Innerchr8:125297379..125317893hg38UCSC Ensembl
Outerchr8:125297345..125317927hg38UCSC Ensembl
chr8:126309604..126330152hg19UCSC Ensembl
Innerchr8:126309621..126330135hg19UCSC Ensembl
Outerchr8:126309587..126330169hg19UCSC Ensembl
Cytoband8q24.13
Allele length
AssemblyAllele length
hg3820549
hg1920549
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3618718
Supporting Variants
SamplesHG02355
Known GenesNSMCE2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13315994
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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