A curated catalogue of human genomic structural variation

Variant Details

Variant: esv2732749

Internal ID9967070
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:136269546..136273069hg38UCSC Ensembl
Outerchr6:136590684..136594207hg19UCSC Ensembl
Allele length
AssemblyAllele length
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
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Pubmed ID23290073
Accession Number(s)esv2732749
Sample Size96
Observed Gain0
Observed Loss64
Observed Complex0

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