A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2729606



Internal ID10313242
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:2862217..2863078hg38UCSC Ensembl
Outerchr5:2862331..2863192hg19UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg38862
hg19862
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6854795, essv6790249, essv6869481, essv6767300, essv6947542, essv6930184, essv6722980, essv6802357, essv6798555, essv6878399, essv6951609, essv6745713, essv6963245, essv6854794, essv6938726, essv6700735, essv6670672, essv6808183, essv6719141, essv6814084, essv6690186, essv6947543, essv6899447, essv6676270, essv6823854, essv6719143, essv6951610, essv6848672, essv6781940, essv6711592, essv6893242, essv6683742, essv6687015, essv6881206, essv6829911, essv6911045, essv6833548, essv6893241, essv6726410, essv6817842, essv6822196, essv6777909, essv6767299, essv6726859, essv6932817, essv6722979, essv6802358, essv6886792, essv6704761, essv6786114, essv6817841, essv6969077, essv6881205, essv6798554, essv6938725, essv6837180, essv6878397, essv6826104, essv6922791, essv6676269, essv6883982, essv6885642, essv6826105, essv6697724, essv6704760, essv6837181, essv6777908, essv6911044, essv6889931, essv6790250, essv6726858, essv6829912, essv6930183, essv6822197, essv6786113, essv6869482
SamplesSSM100, SSM036, SSM083, SSM027, SSM024, SSM075, SSM045, SSM046, SSM064, SSM079, SSM087, SSM038, SSM097, SSM039, SSM073, SSM093, SSM042, SSM028, SSM090, SSM018, SSM069, SSM096, SSM035, SSM094, SSM032, SSM031, SSM067, SSM044, SSM001, SSM086, SSM068, SSM081, SSM040, SSM072, SSM082, SSM020, SSM007, SSM015, SSM078, SSM080, SSM077, SSM022, SSM010, SSM055, SSM070, SSM095, SSM025, SSM034, SSM098, SSM012
Known Genes
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)esv2729606
Frequency
Sample Size96
Observed Gain0
Observed Loss50
Observed Complex0
Frequencyn/a


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