A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3339915



Internal ID15186902
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:93150245..93150253hg38UCSC Ensembl
Innerchr8:93150237..93150261hg38UCSC Ensembl
Outerchr8:93150227..93150269hg38UCSC Ensembl
chr8:94162474..94162482hg19UCSC Ensembl
Innerchr8:94162466..94162490hg19UCSC Ensembl
Outerchr8:94162456..94162498hg19UCSC Ensembl
chr8:94231650..94231658hg18UCSC Ensembl
Innerchr8:94231666..94231642hg18UCSC Ensembl
Outerchr8:94231632..94231674hg18UCSC Ensembl
Cytoband8q22.1
Allele length
AssemblyAllele length
hg38227
hg19227
hg18227
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8677237, essv8677238, essv8677234, essv8677235, essv8677236
SamplesNA12891, NA19238, NA19239, NA12878, NA19240
Known GenesC8orf87
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3339915
Frequency
Sample Size185
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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