A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3395197



Internal ID15242161
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:16981434..16981453hg38UCSC Ensembl
Innerchr17:16981430..16981457hg38UCSC Ensembl
Outerchr17:16981411..16981476hg38UCSC Ensembl
chr17:16884748..16884767hg19UCSC Ensembl
Innerchr17:16884744..16884771hg19UCSC Ensembl
Outerchr17:16884725..16884790hg19UCSC Ensembl
chr17:16825473..16825492hg18UCSC Ensembl
Innerchr17:16825496..16825469hg18UCSC Ensembl
Outerchr17:16825450..16825515hg18UCSC Ensembl
Cytoband17p11.2
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 Variantsessv9673190
SamplesNA12814
Known Genes
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3395197
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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