A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8688151



Internal ID14694123
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:96616605..96618803hg38UCSC Ensembl
Innerchr10:96617605..96617803hg38UCSC Ensembl
Outerchr10:96615605..96619803hg38UCSC Ensembl
chr10:98376362..98378560hg19UCSC Ensembl
Innerchr10:98377362..98377560hg19UCSC Ensembl
Outerchr10:98375362..98379560hg19UCSC Ensembl
chr10:98366352..98368550hg18UCSC Ensembl
Innerchr10:98367352..98367550hg18UCSC Ensembl
Outerchr10:98365352..98369550hg18UCSC Ensembl
Cytoband10q24.1
Allele length
AssemblyAllele length
hg382199
hg192199
hg182199
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3333231
Supporting Variants
SamplesNA19239
Known GenesPIK3AP1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8688151
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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