A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3364401



Internal ID14864662
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:96658824..96658840hg38UCSC Ensembl
Innerchr10:96658822..96658840hg38UCSC Ensembl
Outerchr10:96658806..96658858hg38UCSC Ensembl
chr10:98418581..98418597hg19UCSC Ensembl
Innerchr10:98418579..98418597hg19UCSC Ensembl
Outerchr10:98418563..98418615hg19UCSC Ensembl
chr10:98408571..98408587hg18UCSC Ensembl
Innerchr10:98408587..98408569hg18UCSC Ensembl
Outerchr10:98408553..98408605hg18UCSC Ensembl
Cytoband10q24.1
Allele length
AssemblyAllele length
hg38141
hg19141
hg18141
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8671927, essv8671928
SamplesNA12878, NA12892
Known GenesPIK3AP1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3364401
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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