A curated catalogue of human genomic structural variation




Variant Details

Variant: esv270815



Internal ID1790317
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:45325878..45331800hg19UCSC Ensembl
Outerchr6:45325790..45331888hg19UCSC Ensembl
Innerchr6:45433856..45439778hg18UCSC Ensembl
Outerchr6:45433768..45439866hg18UCSC Ensembl
Cytoband6p12.3
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 Variantsessv2513449, essv2494353, essv2500973, essv2495496, essv2502946
SamplesNA18507, NA18856, NA18916, NA18502, NA18907
Known GenesRUNX2, SUPT3H
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)esv270815
Frequency
Sample Size157
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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