A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2732748



Internal ID9967069
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:136268320..136269458hg38UCSC Ensembl
Outerchr6:136589458..136590596hg19UCSC Ensembl
Cytoband6q23.3
Allele length
AssemblyAllele length
hg381139
hg191139
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6934831, essv6884312, essv6915142, essv6790600, essv6798961, essv6671251, essv6723316, essv6822529, essv6888699, essv6715623, essv6926897, essv6708521, essv6849281, essv6869845, essv6705122, essv6899782, essv6939113, essv6767618, essv6855371, essv6814414, essv6923159, essv6833867, essv6907688, essv6957169, essv6865705, essv6729642, essv6786490, essv6951998, essv6878694, essv6943536, essv6711926, essv6730967, essv6903804, essv6782303, essv6893623, essv6887087, essv6684079, essv6875811, essv6845038, essv6774668, essv6837523, essv6930539, essv6680481, essv6796421, essv6676671, essv6701187, essv6778291, essv6860984, essv6841346, essv6929518, essv6969463, essv6872845, essv6770912, essv6719541, essv6896844, essv6826765, essv6830263, essv6805523, essv6911438, essv6694255, essv6794755, essv6826506, essv6802646, essv6687333, essv6697997, essv6918925, essv6761764, essv6679587, essv6811405, essv6962095, essv6727213, essv6881508, essv6808516, essv6961595
SamplesSSM010, SSM065, SSM022, SSM007, SSM092, SSM013, SSM082, SSM086, SSM091, SSM033, SSM084, SSM099, SSM042, SSM040, SSM043, SSM088, SSM089, SSM090, SSM064, SSM031, SSM035, SSM025, SSM072, SSM020, SSM071, SSM016, SSM001, SSM032, SSM039, SSM045, SSM067, SSM094, SSM083, SSM041, SSM077, SSM005, SSM012, SSM093, SSM100, SSM085, SSM017, SSM009, SSM066, SSM028, SSM003, SSM095, SSM047, SSM073, SSM069, SSM021, SSM037, SSM034, SSM087, SSM038, SSM046, SSM019, SSM096, SSM023, SSM079, SSM068, SSM044, SSM074, SSM004, SSM075, SSM015, SSM026, SSM014, SSM008, SSM098, SSM018, SSM076, SSM081, SSM070, SSM080
Known GenesBCLAF1
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)esv2732748
Frequency
Sample Size96
Observed Gain0
Observed Loss74
Observed Complex0
Frequencyn/a


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