A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13312193



Internal ID994477
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:124356968..124364998hg38UCSC Ensembl
Innerchr8:124356968..124364998hg38UCSC Ensembl
Outerchr8:124356857..124365073hg38UCSC Ensembl
chr8:125369209..125377239hg19UCSC Ensembl
Innerchr8:125369209..125377239hg19UCSC Ensembl
Outerchr8:125369098..125377314hg19UCSC Ensembl
Cytoband8q24.13
Allele length
AssemblyAllele length
hg388031
hg198031
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3618688
Supporting Variants
SamplesHG00622
Known GenesTMEM65
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13312193
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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