A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13312199



Internal ID4381955
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:124453228..124461923hg38UCSC Ensembl
Innerchr8:124453261..124461891hg38UCSC Ensembl
Outerchr8:124453196..124461956hg38UCSC Ensembl
chr8:125465469..125474164hg19UCSC Ensembl
Innerchr8:125465502..125474132hg19UCSC Ensembl
Outerchr8:125465437..125474197hg19UCSC Ensembl
Cytoband8q24.13
Allele length
AssemblyAllele length
hg388696
hg198696
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3618691
Supporting Variants
SamplesHG03907
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13312199
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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