A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3398027



Internal ID15244990
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:109089362..109089374hg38UCSC Ensembl
Innerchr8:109089353..109089383hg38UCSC Ensembl
Outerchr8:109089341..109089392hg38UCSC Ensembl
chr8:110101591..110101603hg19UCSC Ensembl
Innerchr8:110101582..110101612hg19UCSC Ensembl
Outerchr8:110101570..110101621hg19UCSC Ensembl
chr8:110170767..110170779hg18UCSC Ensembl
Innerchr8:110170788..110170758hg18UCSC Ensembl
Outerchr8:110170746..110170797hg18UCSC Ensembl
Cytoband8q23.1
Allele length
AssemblyAllele length
hg38258
hg19258
hg18258
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8941784, essv8941819, essv8941783, essv8941827, essv8941775, essv8941773, essv8941791, essv8941815, essv8941779, essv8941821, essv8941813, essv8941818, essv8941788, essv8941806, essv8941766, essv8941767, essv8941794, essv8941765, essv8941805, essv8941808, essv8941824, essv8941801, essv8941786, essv8941778, essv8941796, essv8941770, essv8941797, essv8941811, essv8941804, essv8941768, essv8941822, essv8941817, essv8941787, essv8941795, essv8941763, essv8941802, essv8941799, essv8941789, essv8941820, essv8941798, essv8941810, essv8941762, essv8941812, essv8941816, essv8941771, essv8941772, essv8941823, essv8941793, essv8941776, essv8941774, essv8941785, essv8941782, essv8941809, essv8941790, essv8941826, essv8941807, essv8941777, essv8941800, essv8941764
SamplesNA18502, NA11830, NA11829, NA18508, NA12414, NA18980, NA18561, NA11931, NA18603, NA18486, NA18545, NA12004, NA07346, NA18944, NA18558, NA18960, NA18942, NA11918, NA07347, NA18582, NA18571, NA12287, NA18949, NA12761, NA12044, NA18973, NA11993, NA11831, NA18605, NA12003, NA18871, NA18572, NA18537, NA18566, NA12249, NA18853, NA19257, NA18555, NA19225, NA12144, NA18570, NA18593, NA12043, NA12716, NA18909, NA11881, NA19108, NA18952, NA18564, NA18943, NA12763, NA18609, NA19116, NA18552, NA18505, NA07000, NA18522, NA18562, NA18577
Known GenesTRHR
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3398027
Frequency
Sample Size185
Observed Gain59
Observed Loss0
Observed Complex0
Frequencyn/a


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