A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7762935



Internal ID13425246
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:35356069..35356070hg38UCSC Ensembl
Innerchr17:35356005..35356134hg38UCSC Ensembl
Outerchr17:35356004..35356135hg38UCSC Ensembl
chr17:33683088..33683089hg19UCSC Ensembl
Innerchr17:33683024..33683153hg19UCSC Ensembl
Outerchr17:33683023..33683154hg19UCSC Ensembl
chr17:30707201..30707202hg18UCSC Ensembl
Innerchr17:30707266..30707137hg18UCSC Ensembl
Outerchr17:30707136..30707267hg18UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg3851
hg1951
hg1851
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3305670
Supporting Variants
SamplesNA12249
Known GenesSLFN11
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7762935
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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