A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3616682



Internal ID6656878
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13147367, essv13147369, essv13147368
SamplesHG00100, HG00099, NA12546
Known GenesCDCA2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3616682
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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