A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2732749



Internal ID9967070
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:136269546..136273069hg38UCSC Ensembl
Outerchr6:136590684..136594207hg19UCSC Ensembl
Cytoband6q23.3
Allele length
AssemblyAllele length
hg383524
hg193524
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6878695, essv6814415, essv6740061, essv6884313, essv6930541, essv6869846, essv6690566, essv6701189, essv6729653, essv6849282, essv6711927, essv6830266, essv6865706, essv6679599, essv6770913, essv6802647, essv6887088, essv6943537, essv6881510, essv6915143, essv6805524, essv6855372, essv6697999, essv6798962, essv6723317, essv6826507, essv6694256, essv6767619, essv6845039, essv6774669, essv6957170, essv6796432, essv6778292, essv6860985, essv6923160, essv6730968, essv6671252, essv6969464, essv6719543, essv6918931, essv6705123, essv6926898, essv6929529, essv6727214, essv6680482, essv6947898, essv6782304, essv6951999, essv6833868, essv6708522, essv6911439, essv6939114, essv6794756, essv6903805, essv6875812, essv6872846, essv6790601, essv6715624, essv6893624, essv6786491, essv6963885, essv6826776, essv6841347, essv6837524
SamplesSSM010, SSM065, SSM022, SSM007, SSM027, SSM092, SSM013, SSM082, SSM086, SSM036, SSM091, SSM033, SSM084, SSM042, SSM040, SSM043, SSM088, SSM089, SSM090, SSM064, SSM031, SSM025, SSM072, SSM020, SSM071, SSM016, SSM039, SSM024, SSM045, SSM067, SSM094, SSM083, SSM041, SSM077, SSM005, SSM093, SSM085, SSM017, SSM009, SSM066, SSM028, SSM003, SSM095, SSM047, SSM073, SSM069, SSM037, SSM087, SSM038, SSM046, SSM019, SSM096, SSM023, SSM052, SSM068, SSM044, SSM074, SSM015, SSM026, SSM098, SSM018, 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)esv2732749
Frequency
Sample Size96
Observed Gain0
Observed Loss64
Observed Complex0
Frequencyn/a


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