A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3618784



Internal ID7005666
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:127920848..127926355hg38UCSC Ensembl
Innerchr8:127920848..127926355hg38UCSC Ensembl
Outerchr8:127920675..127926535hg38UCSC Ensembl
chr8:128933094..128938601hg19UCSC Ensembl
Innerchr8:128933094..128938601hg19UCSC Ensembl
Outerchr8:128932921..128938781hg19UCSC Ensembl
Cytoband8q24.21
Allele length
AssemblyAllele length
hg385508
hg195508
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13322956, essv13322955
SamplesHG02029, NA19917
Known GenesPVT1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3618784
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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