A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3302844



Internal ID15149792
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:125824773..125825193hg38UCSC Ensembl
Innerchr10:125824873..125825093hg38UCSC Ensembl
Outerchr10:125824673..125825293hg38UCSC Ensembl
chr10:127513342..127513762hg19UCSC Ensembl
Innerchr10:127513442..127513662hg19UCSC Ensembl
Outerchr10:127513242..127513862hg19UCSC Ensembl
chr10:127503332..127503752hg18UCSC Ensembl
Innerchr10:127503432..127503652hg18UCSC Ensembl
Outerchr10:127503232..127503852hg18UCSC Ensembl
Cytoband10q26.2
Allele length
AssemblyAllele length
hg38421
hg19421
hg18421
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv520e59
Supporting Variantsessv7737881, essv7735080, essv7731924, essv7733780, essv7738238, essv7738302, essv7735632, essv7738794, essv7734025, essv7735934, essv7736330, essv7734683, essv7735196, essv7733181, essv7732977, essv7735558, essv7733843, essv7738771, essv7732149, essv7738877, essv7733663, essv7736015, essv7732412, essv7737248, essv7739055, essv7734296, essv7732624, essv7737102, essv7734813, essv7734132, essv7733590, essv7736601, essv7739075, essv7734980, essv7738958, essv7733152, essv7738615, essv7738385, essv7734494, essv7732232, essv7737655, essv7736902, essv7736405, essv7735251, essv7733689, essv7735379, essv7732119, essv7733565, essv7738646, essv7734486, essv7733534, essv7733730, essv7737843, essv7737397, essv7732276, essv7736466
SamplesNA18502, NA12717, NA18947, NA18508, NA10851, NA18561, NA18507, NA18545, NA18870, NA07357, NA07346, NA18944, NA18558, NA18547, NA18942, NA07347, NA18571, NA12287, NA18949, NA12044, NA19239, NA12828, NA11993, NA11831, NA10847, NA12489, NA12003, NA12878, NA18579, NA18572, NA18907, NA18537, NA18566, NA19114, NA18499, NA18856, NA12892, NA18532, NA18853, NA19099, NA18555, NA18523, NA18858, NA18593, NA18576, NA12043, NA18542, NA12716, NA11881, NA18952, NA18517, NA07037, NA12763, NA18505, NA12006, NA18562
Known GenesBCCIP
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3302844
Frequency
Sample Size185
Observed Gain56
Observed Loss0
Observed Complex0
Frequencyn/a


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