A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3335693



Internal ID15182683
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:139804027..139804825hg38UCSC Ensembl
Innerchr8:139804026..139804826hg38UCSC Ensembl
Outerchr8:139803027..139805825hg38UCSC Ensembl
chr8:140816270..140817068hg19UCSC Ensembl
Innerchr8:140816269..140817069hg19UCSC Ensembl
Outerchr8:140815270..140818068hg19UCSC Ensembl
chr8:140885452..140886250hg18UCSC Ensembl
Innerchr8:140886251..140885451hg18UCSC Ensembl
Outerchr8:140884452..140887250hg18UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg38799
hg19799
hg18799
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8696189
SamplesNA19240
Known GenesTRAPPC9
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3335693
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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