A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9674570



Internal ID13164752
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:65079788..65079807hg38UCSC Ensembl
Innerchr17:65079784..65079811hg38UCSC Ensembl
Outerchr17:65079765..65079830hg38UCSC Ensembl
chr17:63075906..63075925hg19UCSC Ensembl
Innerchr17:63075902..63075929hg19UCSC Ensembl
Outerchr17:63075883..63075948hg19UCSC Ensembl
chr17:60506368..60506387hg18UCSC Ensembl
Innerchr17:60506391..60506364hg18UCSC Ensembl
Outerchr17:60506345..60506410hg18UCSC Ensembl
Cytoband17q24.1
Allele length
AssemblyAllele length
hg386000
hg196000
hg186000
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3387677
Supporting Variants
SamplesNA11840
Known Genes
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv9674570
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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