A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13279927



Internal ID5868157
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:108058445..108063944hg38UCSC Ensembl
Innerchr8:108058945..108063444hg38UCSC Ensembl
Outerchr8:108057445..108064944hg38UCSC Ensembl
chr8:109070673..109076172hg19UCSC Ensembl
Innerchr8:109071173..109075672hg19UCSC Ensembl
Outerchr8:109069673..109077172hg19UCSC Ensembl
Cytoband8q23.1
Allele length
AssemblyAllele length
hg385500
hg195500
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3618341
Supporting Variants
SamplesNA19248
Known GenesRSPO2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13279927
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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