A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3385139



Internal ID14885421
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:32297912..32297931hg38UCSC Ensembl
Innerchr3:32297908..32297935hg38UCSC Ensembl
Outerchr3:32297889..32297954hg38UCSC Ensembl
chr3:32339404..32339423hg19UCSC Ensembl
Innerchr3:32339400..32339427hg19UCSC Ensembl
Outerchr3:32339381..32339446hg19UCSC Ensembl
chr3:32314408..32314427hg18UCSC Ensembl
Innerchr3:32314431..32314404hg18UCSC Ensembl
Outerchr3:32314385..32314450hg18UCSC Ensembl
Cytoband3p22.3
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 Variantsessv9608880
SamplesNA11918
Known GenesCMTM8
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3385139
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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