A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13358276



Internal ID3360092
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:140397686..140512123hg38UCSC Ensembl
Innerchr8:140397836..140511973hg38UCSC Ensembl
Outerchr8:140397536..140512273hg38UCSC Ensembl
chr8:141407785..141522222hg19UCSC Ensembl
Innerchr8:141407935..141522072hg19UCSC Ensembl
Outerchr8:141407635..141522372hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg38114438
hg19114438
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3619033
Supporting Variants
SamplesNA19035
Known GenesCHRAC1, TRAPPC9
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13358276
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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