A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3356066



Internal ID14856330
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:150040545..150040581hg38UCSC Ensembl
Innerchr3:150040549..150040575hg38UCSC Ensembl
Outerchr3:150040513..150040613hg38UCSC Ensembl
chr3:149758332..149758368hg19UCSC Ensembl
Innerchr3:149758336..149758362hg19UCSC Ensembl
Outerchr3:149758300..149758400hg19UCSC Ensembl
chr3:151241022..151241058hg18UCSC Ensembl
Innerchr3:151241052..151241026hg18UCSC Ensembl
Outerchr3:151240990..151241090hg18UCSC Ensembl
Cytoband3q25.1
Allele length
AssemblyAllele length
hg38265
hg19265
hg18265
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8915968, essv8915966, essv8915970, essv8915971, essv8915967
SamplesNA18510, NA18489, NA18871, NA18523, NA19102
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3356066
Frequency
Sample Size185
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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