A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2730635



Internal ID10314271
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:116558389..116558755hg38UCSC Ensembl
Outerchr5:115894085..115894451hg19UCSC Ensembl
Cytoband5q23.1
Allele length
AssemblyAllele length
hg38367
hg19367
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6837257, essv6805269, essv6690268, essv6869557, essv6934504, essv6911140, essv6680233, essv6708255, essv6886531, essv6683852, essv6926632, essv6871708, essv6745796, essv6824521, essv6767372, essv6860594, essv6778005, essv6938928, essv6943168, essv6748584, essv6893336, essv6854952, essv6793332, essv6969180, essv6697797, essv6676379, essv6899549, essv6700857, essv6881279, essv6822290, essv6974453, essv6786213, essv6715337, essv6875536, essv6687103, essv6963414, essv6886871, essv6670861, essv6848837, essv6790331, essv6814165, essv6878474, essv6727065, essv6667444, essv6730703, essv6726962, essv6817983, essv6947635, essv6841060, essv6774448, essv6782018, essv6693977, essv6794479, essv6802426, essv6830010, essv6926507, essv6742990, essv6677010, essv6751437, essv6956694, essv6865372, essv6884062, essv6907336, essv6853942, essv6770613, essv6918566, essv6951701, essv6808261, essv6896631, essv6903566, essv6930277, essv6798660, essv6719250, essv6844755, essv6959118, essv6811159, essv6872574, essv6826207, essv6922879, essv6711672
SamplesSSM100, SSM036, SSM083, SSM071, SSM027, SSM024, SSM075, SSM046, SSM011, SSM064, SSM079, SSM065, SSM087, SSM038, SSM039, SSM013, SSM009, SSM073, SSM093, SSM074, SSM042, SSM088, SSM002, SSM041, SSM057, SSM023, SSM028, SSM092, SSM084, SSM090, SSM021, SSM047, SSM018, SSM069, SSM029, SSM096, SSM026, SSM089, SSM017, SSM019, SSM035, SSM094, SSM032, SSM003, SSM031, SSM067, SSM044, SSM001, SSM014, SSM086, SSM033, SSM066, SSM085, SSM068, SSM081, SSM072, SSM020, SSM007, SSM015, SSM078, SSM053, SSM005, SSM080, SSM037, SSM077, SSM076, SSM010, SSM091, SSM055, SSM070, SSM095, SSM025, SSM034, SSM004, SSM099, SSM043, SSM098, SSM056, SSM030, SSM012
Known GenesSEMA6A
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)esv2730635
Frequency
Sample Size96
Observed Gain0
Observed Loss80
Observed Complex0
Frequencyn/a


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