A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3342637



Internal ID14842905
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:125011862..125011874hg38UCSC Ensembl
Innerchr8:125011853..125011883hg38UCSC Ensembl
Outerchr8:125011841..125011895hg38UCSC Ensembl
chr8:126024104..126024116hg19UCSC Ensembl
Innerchr8:126024095..126024125hg19UCSC Ensembl
Outerchr8:126024083..126024137hg19UCSC Ensembl
chr8:126093286..126093298hg18UCSC Ensembl
Innerchr8:126093307..126093277hg18UCSC Ensembl
Outerchr8:126093265..126093319hg18UCSC Ensembl
Cytoband8q24.13
Allele length
AssemblyAllele length
hg38288
hg19288
hg18288
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8676990, essv8676993, essv8676989, essv8676992, essv8676991
SamplesNA12891, NA19238, NA19239, NA12878, NA19240
Known GenesSQLE
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3342637
Frequency
Sample Size185
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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