A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3616609



Internal ID7003495
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:22422936..22426795hg38UCSC Ensembl
Innerchr8:22422997..22426734hg38UCSC Ensembl
Outerchr8:22422875..22426856hg38UCSC Ensembl
chr8:22280449..22284308hg19UCSC Ensembl
Innerchr8:22280510..22284247hg19UCSC Ensembl
Outerchr8:22280388..22284369hg19UCSC Ensembl
Cytoband8p21.3
Allele length
AssemblyAllele length
hg383860
hg193860
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13133481
SamplesHG00982
Known GenesSLC39A14
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3616609
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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