A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13169146



Internal ID3170962
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:38391024..38394062hg38UCSC Ensembl
Innerchr8:38391038..38394049hg38UCSC Ensembl
Outerchr8:38391011..38394076hg38UCSC Ensembl
chr8:38248542..38251580hg19UCSC Ensembl
Innerchr8:38248556..38251567hg19UCSC Ensembl
Outerchr8:38248529..38251594hg19UCSC Ensembl
Cytoband8p11.23
Allele length
AssemblyAllele length
hg383039
hg193039
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3616925
Supporting Variants
SamplesHG03955
Known GenesLETM2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13169146
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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