A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3617997



Internal ID7004880
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13253784, essv13253785
SamplesNA19238, NA18499
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3617997
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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