A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13253785



Internal ID5860023
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:90398307..90401856hg38UCSC Ensembl
Innerchr8:90398323..90401840hg38UCSC Ensembl
Outerchr8:90398291..90401872hg38UCSC Ensembl
chr8:91410535..91414084hg19UCSC Ensembl
Innerchr8:91410551..91414068hg19UCSC Ensembl
Outerchr8:91410519..91414100hg19UCSC Ensembl
Cytoband8q21.3
Allele length
AssemblyAllele length
hg383550
hg193550
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3617997
Supporting Variants
SamplesNA19238
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13253785
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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