A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8971308



Internal ID13890510
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:17077751..17077805hg38UCSC Ensembl
Innerchr17:17077761..17077792hg38UCSC Ensembl
Outerchr17:17077710..17077846hg38UCSC Ensembl
chr17:16981065..16981119hg19UCSC Ensembl
Innerchr17:16981075..16981106hg19UCSC Ensembl
Outerchr17:16981024..16981160hg19UCSC Ensembl
chr17:16921790..16921844hg18UCSC Ensembl
Innerchr17:16921831..16921800hg18UCSC Ensembl
Outerchr17:16921749..16921885hg18UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg38282
hg19282
hg18282
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3414266
Supporting Variants
SamplesNA18520
Known GenesMPRIP
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8971308
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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