A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3616674



Internal ID6656870
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:25189848..25190854hg38UCSC Ensembl
Innerchr8:25189874..25190828hg38UCSC Ensembl
Outerchr8:25189822..25190880hg38UCSC Ensembl
chr8:25047363..25048369hg19UCSC Ensembl
Innerchr8:25047389..25048343hg19UCSC Ensembl
Outerchr8:25047337..25048395hg19UCSC Ensembl
Cytoband8p21.2
Allele length
AssemblyAllele length
hg381007
hg191007
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13140652, essv13140651
SamplesHG01241, NA20822
Known GenesDOCK5
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3616674
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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