A curated catalogue of human genomic structural variation

Variant Details

Variant: esv268421

Internal ID1791637
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:71706317..71706421hg19UCSC Ensembl
Outerchr2:71706257..71706481hg19UCSC Ensembl
Innerchr2:71559825..71559929hg18UCSC Ensembl
Outerchr2:71559765..71559989hg18UCSC Ensembl
Allele length
AssemblyAllele length
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
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
Pubmed ID20981092
Accession Number(s)esv268421
Sample Size157
Observed Gain47
Observed Loss0
Observed Complex0

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