A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3618787



Internal ID7005669
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:127961216..127967672hg38UCSC Ensembl
Innerchr8:127961224..127967665hg38UCSC Ensembl
Outerchr8:127961209..127967680hg38UCSC Ensembl
chr8:128973462..128979918hg19UCSC Ensembl
Innerchr8:128973470..128979911hg19UCSC Ensembl
Outerchr8:128973455..128979926hg19UCSC Ensembl
Cytoband8q24.21
Allele length
AssemblyAllele length
hg386457
hg196457
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13322982, essv13322981, essv13322980
SamplesHG03874, HG04020, HG03974
Known GenesPVT1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3618787
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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