A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2730453



Internal ID10314089
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:90564578..90565033hg38UCSC Ensembl
Outerchr5:89860395..89860850hg19UCSC Ensembl
Cytoband5q14.3
Allele length
AssemblyAllele length
hg38456
hg19456
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6790311, essv6764858, essv6794452, essv6676350, essv6777982, essv6742962, essv6914910, essv6697780, essv6802403, essv6833601, essv6700829, essv6903548, essv6690245, essv6878452, essv6811137, essv6896608, essv6786185, essv6711651, essv6693949, essv6886845, essv6808235, essv6726934, essv6926362, essv6974415, essv6822262, essv6726909, essv6748569, essv6956660, essv6826181, essv6837237, essv6708230, essv6951678, essv6886341, essv6911113, essv6824343, essv6736805, essv6872558, essv6817949, essv6934486, essv6922858, essv6723033, essv6899528, essv6754340, essv6805248, essv6687080, essv6767352, essv6875523, essv6869535, essv6884039, essv6829981, essv6670824, essv6893307, essv6907308, essv6938801, essv6680217, essv6958929, essv6762488, essv6881252, essv6730687, essv6848797, essv6844739, essv6757241
SamplesSSM100, SSM059, SSM036, SSM083, SSM071, SSM075, SSM045, SSM046, SSM064, SSM079, SSM038, SSM039, SSM013, SSM073, SSM093, SSM050, SSM074, SSM042, SSM041, SSM058, SSM092, SSM090, SSM021, SSM047, SSM018, SSM069, SSM029, SSM096, SSM062, SSM026, SSM035, SSM094, SSM032, SSM003, SSM031, SSM067, SSM014, SSM086, SSM033, SSM085, SSM081, SSM082, SSM007, SSM015, SSM078, SSM016, SSM053, SSM080, SSM037, SSM076, SSM022, SSM010, SSM091, SSM070, SSM095, SSM025, SSM004, SSM099, SSM098, SSM056, SSM063, SSM012
Known GenesGPR98
MethodSequencing
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Comments
ReferenceWong_et_al_2012b
Pubmed ID23290073
Accession Number(s)esv2730453
Frequency
Sample Size96
Observed Gain0
Observed Loss62
Observed Complex0
Frequencyn/a


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