A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3330588



Internal ID14830865
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:107599836..107599855hg38UCSC Ensembl
Innerchr1:107599832..107599859hg38UCSC Ensembl
Outerchr1:107599813..107599878hg38UCSC Ensembl
chr1:108142458..108142477hg19UCSC Ensembl
Innerchr1:108142454..108142481hg19UCSC Ensembl
Outerchr1:108142435..108142500hg19UCSC Ensembl
chr1:107943981..107944000hg18UCSC Ensembl
Innerchr1:107944004..107943977hg18UCSC Ensembl
Outerchr1:107943958..107944023hg18UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg38300
hg19300
hg18300
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9596002, essv9596013, essv9596024, essv9595990, essv9596035
SamplesNA12043, NA07347, NA12873, NA12234, NA12812
Known GenesVAV3
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3330588
Frequency
Sample Size185
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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