A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3618659



Internal ID7005541
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:122983450..122985142hg38UCSC Ensembl
Innerchr8:122983450..122985142hg38UCSC Ensembl
Outerchr8:122983236..122985438hg38UCSC Ensembl
chr8:123995690..123997382hg19UCSC Ensembl
Innerchr8:123995690..123997382hg19UCSC Ensembl
Outerchr8:123995476..123997678hg19UCSC Ensembl
Cytoband8q24.13
Allele length
AssemblyAllele length
hg381693
hg191693
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13309001
SamplesHG01342
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3618659
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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