A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13147368



Internal ID3149184
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:25494700..25499550hg38UCSC Ensembl
Innerchr8:25494750..25499500hg38UCSC Ensembl
Outerchr8:25494650..25499600hg38UCSC Ensembl
chr8:25352216..25357066hg19UCSC Ensembl
Innerchr8:25352266..25357016hg19UCSC Ensembl
Outerchr8:25352166..25357116hg19UCSC Ensembl
Cytoband8p21.2
Allele length
AssemblyAllele length
hg384851
hg194851
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3616682
Supporting Variants
SamplesHG00100
Known GenesCDCA2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13147368
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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