A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13192137



Internal ID6942927
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:47147024..47151531hg38UCSC Ensembl
Innerchr8:47147050..47151506hg38UCSC Ensembl
Outerchr8:47146999..47151557hg38UCSC Ensembl
chr8:48058647..48063154hg19UCSC Ensembl
Innerchr8:48058673..48063129hg19UCSC Ensembl
Outerchr8:48058622..48063180hg19UCSC Ensembl
Cytoband8q11.1
Allele length
AssemblyAllele length
hg384508
hg194508
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3617087
Supporting Variants
SamplesNA21127
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13192137
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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