A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7753970



Internal ID14342262
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:30131308..30131309hg38UCSC Ensembl
Innerchr17:30131242..30131375hg38UCSC Ensembl
Outerchr17:30131241..30131376hg38UCSC Ensembl
chr17:28458326..28458327hg19UCSC Ensembl
Innerchr17:28458260..28458393hg19UCSC Ensembl
Outerchr17:28458259..28458394hg19UCSC Ensembl
chr17:25482452..25482453hg18UCSC Ensembl
Innerchr17:25482519..25482386hg18UCSC Ensembl
Outerchr17:25482385..25482520hg18UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg3855
hg1955
hg1855
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3303973
Supporting Variants
SamplesNA18853
Known GenesNSRP1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7753970
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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