A curated catalogue of human genomic structural variation




Variant Details

Variant: esv271047



Internal ID1793005
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:120071672..120071892hg19UCSC Ensembl
Outerchr4:120071636..120071928hg19UCSC Ensembl
Innerchr4:120291120..120291340hg18UCSC Ensembl
Outerchr4:120291084..120291376hg18UCSC Ensembl
Cytoband4q26
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 Variantsessv2541688, essv2542527, essv2536718, essv2567675, essv2533114, essv2577635, essv2531625, essv2577828, essv2562026, essv2554364, essv2535937, essv2532892
SamplesNA12043, NA11920, NA07051, NA11919, NA18576, NA18592, NA12761, NA07346, NA06986, NA18961, NA18577, NA12874
Known GenesMYOZ2
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)esv271047
Frequency
Sample Size157
Observed Gain12
Observed Loss0
Observed Complex0
Frequencyn/a


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