A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3303585



Internal ID15150533
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:95658504..95658505hg38UCSC Ensembl
Innerchr5:95658487..95658522hg38UCSC Ensembl
Outerchr5:95658486..95658523hg38UCSC Ensembl
chr5:94994208..94994209hg19UCSC Ensembl
Innerchr5:94994191..94994226hg19UCSC Ensembl
Outerchr5:94994190..94994227hg19UCSC Ensembl
chr5:95019964..95019965hg18UCSC Ensembl
Innerchr5:95019982..95019947hg18UCSC Ensembl
Outerchr5:95019946..95019983hg18UCSC Ensembl
Cytoband5q15
Allele length
AssemblyAllele length
hg38291
hg19291
hg18291
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7835845, essv7807479, essv7795898, essv7819126, essv7826191, essv7798996, essv7813013, essv7820569, essv7790236, essv7834820, essv7806557, essv7770860, essv7830000, essv7784972, essv7812811, essv7774508, essv7812095, essv7801545, essv7822093, essv7804124, essv7808822, essv7797266, essv7783860, essv7780102, essv7793882, essv7797816, essv7816811, essv7776956, essv7816324, essv7807871, essv7810198, essv7788372, essv7824398, essv7770100, essv7771239, essv7783339, essv7790534, essv7776337, essv7811024, essv7787412, essv7809936, essv7793426, essv7791132, essv7818383, essv7807296, essv7800881, essv7795958, essv7784286, essv7804567, essv7822223, essv7815436, essv7800002, essv7798272, essv7812544, essv7819873, essv7818784, essv7773871, essv7802833, essv7785727
SamplesNA18502, NA12717, NA11829, NA18508, NA10851, NA12414, NA18980, NA18507, NA11931, NA18603, NA12751, NA18870, NA18526, NA07357, NA18944, NA18940, NA18550, NA12891, NA18547, NA18942, NA12287, NA12815, NA11831, NA10847, NA18605, NA12489, NA12003, NA12878, NA12872, NA18956, NA18572, NA12234, NA18537, NA18566, NA11919, NA18499, NA12249, NA12892, NA18532, NA19225, NA18570, NA18576, NA12043, NA18608, NA18953, NA18542, NA12716, NA11881, NA18961, NA18943, NA07037, NA18501, NA19116, NA18552, NA18505, NA12006, NA07000, NA18562, NA18577
Known GenesSPATA9
MethodSequencing
Analysis
PlatformRoche 454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3303585
Frequency
Sample Size185
Observed Gain59
Observed Loss0
Observed Complex0
Frequencyn/a


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