A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3618157



Internal ID7005040
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:98912501..98917495hg38UCSC Ensembl
Innerchr8:98912501..98917495hg38UCSC Ensembl
Outerchr8:98912443..98917763hg38UCSC Ensembl
chr8:99924729..99929723hg19UCSC Ensembl
Innerchr8:99924729..99929723hg19UCSC Ensembl
Outerchr8:99924671..99929991hg19UCSC Ensembl
Cytoband8q22.2
Allele length
AssemblyAllele length
hg384995
hg194995
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13267408
SamplesHG01485
Known GenesSTK3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3618157
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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