A curated catalogue of human genomic structural variation




Variant Details

Variant: esv270202



Internal ID1790641
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:75450639..75450784hg19UCSC Ensembl
Outerchr9:75450567..75450856hg19UCSC Ensembl
Innerchr9:74640459..74640604hg18UCSC Ensembl
Outerchr9:74640387..74640676hg18UCSC Ensembl
Cytoband9q21.13
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 Variantsessv2495754, essv2507988, essv2510197
SamplesNA10851, NA12003, NA07000
Known GenesTMC1
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)esv270202
Frequency
Sample Size157
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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