A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8696170



Internal ID14710005
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:130787024..130788122hg38UCSC Ensembl
Innerchr8:130787122..130788024hg38UCSC Ensembl
Outerchr8:130786024..130789122hg38UCSC Ensembl
chr8:131799270..131800368hg19UCSC Ensembl
Innerchr8:131799368..131800270hg19UCSC Ensembl
Outerchr8:131798270..131801368hg19UCSC Ensembl
chr8:131868452..131869550hg18UCSC Ensembl
Innerchr8:131869452..131868550hg18UCSC Ensembl
Outerchr8:131867452..131870550hg18UCSC Ensembl
Cytoband8q24.22
Allele length
AssemblyAllele length
hg381099
hg191099
hg181099
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3362459
Supporting Variants
SamplesNA19239
Known GenesADCY8
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8696170
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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