A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3329755



Internal ID15176741
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:70303945..70303959hg38UCSC Ensembl
Innerchr17:70303947..70303957hg38UCSC Ensembl
Outerchr17:70303943..70303961hg38UCSC Ensembl
chr17:68300086..68300100hg19UCSC Ensembl
Innerchr17:68300088..68300098hg19UCSC Ensembl
Outerchr17:68300084..68300102hg19UCSC Ensembl
chr17:65811681..65811695hg18UCSC Ensembl
Innerchr17:65811683..65811693hg18UCSC Ensembl
Outerchr17:65811679..65811697hg18UCSC Ensembl
Cytoband17q24.3
Allele length
AssemblyAllele length
hg3859
hg1959
hg1859
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7865993
SamplesNA12005
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3329755
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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