A curated catalogue of human genomic structural variation




Variant Details

Variant: esv272697



Internal ID1808464
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:169524888..169525464hg19UCSC Ensembl
Outerchr1:169524832..169525520hg19UCSC Ensembl
Innerchr1:167791512..167792088hg18UCSC Ensembl
Outerchr1:167791456..167792144hg18UCSC Ensembl
Cytoband1q24.2
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
Variant TypeCNV Insertion
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Merged StatusM
Merged Variants
Supporting Variantsessv2580940, essv2579983, essv2579434
SamplesNA12892, NA19238, NA19240
Known GenesF5
Method
AnalysisAnalysis structural variant merging of all supporting structural variant calls generated by type of computational approach: read pair mapping and split read alignment.
Platform454 GS FLX + Illumina Genome Analyzer II
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv272697
Frequency
Sample Size157
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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