A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13364437



Internal ID3395514
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:143030291..143033047hg38UCSC Ensembl
Innerchr8:143030441..143032897hg38UCSC Ensembl
Outerchr8:143030141..143033197hg38UCSC Ensembl
chr8:144111708..144114464hg19UCSC Ensembl
Innerchr8:144111858..144114314hg19UCSC Ensembl
Outerchr8:144111558..144114614hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg382757
hg192757
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3619095
Supporting Variants
SamplesHG03046
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13364437
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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