A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13338105



Internal ID6356033
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:133389875..133393305hg38UCSC Ensembl
Innerchr8:133389892..133393288hg38UCSC Ensembl
Outerchr8:133389858..133393322hg38UCSC Ensembl
chr8:134402118..134405548hg19UCSC Ensembl
Innerchr8:134402135..134405531hg19UCSC Ensembl
Outerchr8:134402101..134405565hg19UCSC Ensembl
Cytoband8q24.22
Allele length
AssemblyAllele length
hg383431
hg193431
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3618888
Supporting Variants
SamplesNA20287
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13338105
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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