A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3387041



Internal ID15234010
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:47000818..47000837hg38UCSC Ensembl
Innerchr3:47000814..47000841hg38UCSC Ensembl
Outerchr3:47000795..47000860hg38UCSC Ensembl
chr3:47042308..47042327hg19UCSC Ensembl
Innerchr3:47042304..47042331hg19UCSC Ensembl
Outerchr3:47042285..47042350hg19UCSC Ensembl
chr3:47017312..47017331hg18UCSC Ensembl
Innerchr3:47017335..47017308hg18UCSC Ensembl
Outerchr3:47017289..47017354hg18UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg386000
hg196000
hg186000
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9609546
SamplesNA12872
Known GenesNBEAL2
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3387041
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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