A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3378708



Internal ID14878979
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:29422279..29422298hg38UCSC Ensembl
Innerchr2:29422275..29422302hg38UCSC Ensembl
Outerchr2:29422256..29422321hg38UCSC Ensembl
chr2:29645145..29645164hg19UCSC Ensembl
Innerchr2:29645141..29645168hg19UCSC Ensembl
Outerchr2:29645122..29645187hg19UCSC Ensembl
chr2:29498649..29498668hg18UCSC Ensembl
Innerchr2:29498672..29498645hg18UCSC Ensembl
Outerchr2:29498626..29498691hg18UCSC Ensembl
Cytoband2p23.2
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 Variantsessv9600491
SamplesNA19143
Known GenesALK
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3378708
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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