A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13364511



Internal ID5606417
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:143130544..143141185hg38UCSC Ensembl
Innerchr8:143130694..143141035hg38UCSC Ensembl
Outerchr8:143130394..143141335hg38UCSC Ensembl
chr8:144211961..144222602hg19UCSC Ensembl
Innerchr8:144212111..144222452hg19UCSC Ensembl
Outerchr8:144211811..144222752hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg3810642
hg1910642
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3619099
Supporting Variants
SamplesNA19037
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13364511
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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