A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3306310



Internal ID15153258
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:16981443..16981444hg38UCSC Ensembl
Innerchr17:16981421..16981466hg38UCSC Ensembl
Outerchr17:16981420..16981467hg38UCSC Ensembl
chr17:16884757..16884758hg19UCSC Ensembl
Innerchr17:16884735..16884780hg19UCSC Ensembl
Outerchr17:16884734..16884781hg19UCSC Ensembl
chr17:16825482..16825483hg18UCSC Ensembl
Innerchr17:16825505..16825460hg18UCSC Ensembl
Outerchr17:16825459..16825506hg18UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg383026
hg193026
hg183026
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7766508
SamplesNA12814
Known Genes
MethodSequencing
Analysis
PlatformRoche 454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3306310
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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