A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3376555



Internal ID15223528
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:37512964..37512983hg38UCSC Ensembl
Innerchr17:37512960..37512987hg38UCSC Ensembl
Outerchr17:37512941..37513006hg38UCSC Ensembl
chr17:35873066..35873085hg19UCSC Ensembl
Innerchr17:35873062..35873089hg19UCSC Ensembl
Outerchr17:35873043..35873108hg19UCSC Ensembl
chr17:32947179..32947198hg18UCSC Ensembl
Innerchr17:32947202..32947175hg18UCSC Ensembl
Outerchr17:32947156..32947221hg18UCSC Ensembl
Cytoband17q12
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 Variantsessv9673646
SamplesNA12873
Known GenesDUSP14
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3376555
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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