A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3619083



Internal ID7005963
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:142257896..142274521hg38UCSC Ensembl
Innerchr8:142257896..142274521hg38UCSC Ensembl
Outerchr8:142257396..142275021hg38UCSC Ensembl
chr8:143339257..143355882hg19UCSC Ensembl
Innerchr8:143339257..143355882hg19UCSC Ensembl
Outerchr8:143338757..143356382hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg3816626
hg1916626
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13361826
SamplesNA20514
Known GenesTSNARE1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3619083
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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