A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3619043



Internal ID7005924
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:140937844..140943133hg38UCSC Ensembl
Innerchr8:140937844..140943133hg38UCSC Ensembl
Outerchr8:140937696..140943287hg38UCSC Ensembl
chr8:141947943..141953232hg19UCSC Ensembl
Innerchr8:141947943..141953232hg19UCSC Ensembl
Outerchr8:141947795..141953386hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg385290
hg195290
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13358312
SamplesHG02491
Known GenesPTK2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3619043
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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