A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13358307



Internal ID436714
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:140767894..140768247hg38UCSC Ensembl
Innerchr8:140767904..140768237hg38UCSC Ensembl
Outerchr8:140767884..140768257hg38UCSC Ensembl
chr8:141777993..141778346hg19UCSC Ensembl
Innerchr8:141778003..141778336hg19UCSC Ensembl
Outerchr8:141777983..141778356hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg38354
hg19354
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3619040
Supporting Variants
SamplesHG00133
Known GenesPTK2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13358307
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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