A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3325601



Internal ID14825882
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:91174027..91174153hg38UCSC Ensembl
Innerchr8:91174059..91174119hg38UCSC Ensembl
Outerchr8:91173933..91174245hg38UCSC Ensembl
chr8:92186255..92186381hg19UCSC Ensembl
Innerchr8:92186287..92186347hg19UCSC Ensembl
Outerchr8:92186161..92186473hg19UCSC Ensembl
chr8:92255431..92255557hg18UCSC Ensembl
Innerchr8:92255523..92255463hg18UCSC Ensembl
Outerchr8:92255337..92255649hg18UCSC Ensembl
Cytoband8q21.3
Allele length
AssemblyAllele length
hg3857
hg1957
hg1857
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8677229, essv8677228, essv8677230
SamplesNA12892, NA19238, NA12878
Known GenesLRRC69
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3325601
Frequency
Sample Size185
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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