A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3618567



Internal ID7005449
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:118051305..118057240hg38UCSC Ensembl
Innerchr8:118051357..118057189hg38UCSC Ensembl
Outerchr8:118051254..118057292hg38UCSC Ensembl
chr8:119063544..119069479hg19UCSC Ensembl
Innerchr8:119063596..119069428hg19UCSC Ensembl
Outerchr8:119063493..119069531hg19UCSC Ensembl
Cytoband8q24.11
Allele length
AssemblyAllele length
hg385936
hg195936
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13301520
SamplesHG03046
Known GenesEXT1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3618567
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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