A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3618742



Internal ID7005624
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:126272870..126280268hg38UCSC Ensembl
Innerchr8:126272870..126280268hg38UCSC Ensembl
Outerchr8:126272650..126280490hg38UCSC Ensembl
chr8:127285115..127292513hg19UCSC Ensembl
Innerchr8:127285115..127292513hg19UCSC Ensembl
Outerchr8:127284895..127292735hg19UCSC Ensembl
Cytoband8q24.13
Allele length
AssemblyAllele length
hg387399
hg197399
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13317871, essv13317870
SamplesHG04164, HG04188
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3618742
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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