A curated catalogue of human genomic structural variation




Variant Details

Variant: esv268421



Internal ID1791637
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:71706317..71706421hg19UCSC Ensembl
Outerchr2:71706257..71706481hg19UCSC Ensembl
Innerchr2:71559825..71559929hg18UCSC Ensembl
Outerchr2:71559765..71559989hg18UCSC Ensembl
Cytoband2p13.2
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 Variantsessv2500490, essv2495017, essv2513150, essv2512381, essv2510724, essv2496639, essv2502702, essv2498428, essv2503789, essv2500319, essv2497373, essv2511134, essv2504967, essv2504414, essv2511460, essv2493441, essv2509748, essv2508802, essv2511200, essv2499912, essv2493143, essv2509995, essv2508040, essv2495319, essv2511802, essv2507776, essv2496219, essv2503458, essv2505419, essv2511282, essv2496776, essv2502565, essv2508565, essv2495475, essv2513110, essv2499539, essv2509277, essv2500944, essv2511615, essv2505559, essv2512460, essv2500172, essv2512820, essv2503410, essv2495851, essv2500800, essv2506087
SamplesNA12154, NA12043, NA12489, NA12249, NA12750, NA18951, NA18523, NA18952, NA11920, NA18501, NA18570, NA18511, NA10847, NA11931, NA18947, NA07051, NA18965, NA12287, NA18949, NA11919, NA12763, NA18508, NA07357, NA18856, NA12761, NA18956, NA18959, NA11894, NA18973, NA18593, NA12751, NA12006, NA12716, NA18498, NA18858, NA18942, NA18562, NA18940, NA12891, NA18909, NA12878, NA18944, NA11993, NA18499, NA12045, NA12717, NA18980
Known GenesDYSF
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)esv268421
Frequency
Sample Size157
Observed Gain47
Observed Loss0
Observed Complex0
Frequencyn/a


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