A curated catalogue of human genomic structural variation




Variant Details

Variant: esv269412



Internal ID1793590
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:6066826..6066831hg19UCSC Ensembl
Outerchr12:6066772..6066885hg19UCSC Ensembl
Innerchr12:5937087..5937092hg18UCSC Ensembl
Outerchr12:5937033..5937146hg18UCSC Ensembl
Cytoband12p13.31
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 Variantsessv2493673, essv2504690, essv2493170, essv2496833, essv2499759, essv2511720, essv2494754, essv2510446, essv2504318, essv2493551, essv2513525, essv2505166, essv2505993
SamplesNA19137, NA18523, NA18517, NA18505, NA19172, NA18498, NA18504, NA18907, NA19099, NA19225, NA18499, NA18853, NA18519
Known GenesVWF
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)esv269412
Frequency
Sample Size157
Observed Gain13
Observed Loss0
Observed Complex0
Frequencyn/a


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