A curated catalogue of human genomic structural variation




Variant Details

Variant: esv271843



Internal ID1790496
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:44043135..44048342hg19UCSC Ensembl
Outerchr2:44043089..44048388hg19UCSC Ensembl
Innerchr2:43896639..43901846hg18UCSC Ensembl
Outerchr2:43896593..43901892hg18UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
Variant TypeCNV Insertion
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsessv2516729
SamplesNA11881
Known GenesABCG5
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)esv271843
Frequency
Sample Size157
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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