A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3330100



Internal ID14830377
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:18410457..18410457hg38UCSC Ensembl
Innerchr3:18410456..18410458hg38UCSC Ensembl
Outerchr3:18410397..18410507hg38UCSC Ensembl
chr3:18451949..18451949hg19UCSC Ensembl
Innerchr3:18451948..18451950hg19UCSC Ensembl
Outerchr3:18451889..18451999hg19UCSC Ensembl
chr3:18426953..18426953hg18UCSC Ensembl
Innerchr3:18426954..18426952hg18UCSC Ensembl
Outerchr3:18426893..18427003hg18UCSC Ensembl
Cytoband3p24.3
Allele length
AssemblyAllele length
hg3866
hg1966
hg1866
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8831293
SamplesNA12878
Known GenesSATB1
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3330100
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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