A curated catalogue of human genomic structural variation




Variant Details

Variant: esv272728



Internal ID1808694
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:43283292..43283371hg19UCSC Ensembl
Outerchr1:43283258..43283405hg19UCSC Ensembl
Innerchr1:43055879..43055958hg18UCSC Ensembl
Outerchr1:43055845..43055992hg18UCSC Ensembl
Cytoband1p34.2
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 Variantsessv2584284, essv2583723
SamplesNA19238, NA19240
Known GenesERMAP
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)esv272728
Frequency
Sample Size157
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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