A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3305632



Internal ID14805894
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:109089362..109089363hg38UCSC Ensembl
Innerchr8:109089345..109089380hg38UCSC Ensembl
Outerchr8:109089344..109089381hg38UCSC Ensembl
chr8:110101591..110101592hg19UCSC Ensembl
Innerchr8:110101574..110101609hg19UCSC Ensembl
Outerchr8:110101573..110101610hg19UCSC Ensembl
chr8:110170767..110170768hg18UCSC Ensembl
Innerchr8:110170785..110170750hg18UCSC Ensembl
Outerchr8:110170749..110170786hg18UCSC Ensembl
Cytoband8q23.1
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 Variantsessv7799200, essv7798104, essv7809467, essv7833276, essv7811302, essv7777097, essv7787678, essv7827755, essv7773233, essv7835604, essv7816581, essv7772903, essv7826197, essv7821054, essv7784513, essv7808047, essv7810068, essv7790000, essv7794642, essv7807162, essv7800109, essv7835231, essv7803744, essv7779205, essv7815223, essv7794140, essv7770301, essv7808336, essv7791744, essv7777446, essv7778512, essv7772280, essv7801824, essv7785718, essv7816186, essv7826565, essv7822128, essv7771058, essv7804082, essv7824425, essv7782326, essv7779796, essv7809871, essv7829268, essv7790655, essv7830180, essv7787053, essv7774489, essv7823242, essv7775471, essv7827391, essv7793746, essv7821893, essv7829089, essv7819802, essv7774952, essv7808699, essv7817995, essv7781758, essv7773821, essv7823734, essv7805842
SamplesNA18502, NA11830, NA11829, NA18508, NA12414, NA18980, NA18561, NA11931, NA18603, NA18486, NA18545, NA12004, NA07346, NA18944, NA12891, NA18558, NA18960, NA18942, NA11918, NA07347, NA18582, NA18571, NA12287, NA18949, NA12761, NA12044, NA18973, NA11993, NA11831, NA18605, NA12003, NA12878, NA12872, 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
PlatformRoche 454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3305632
Frequency
Sample Size185
Observed Gain62
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer