A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2732460



Internal ID10316096
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:96712063..96712707hg38UCSC Ensembl
Outerchr6:97159939..97160583hg19UCSC Ensembl
Cytoband6q16.1
Allele length
AssemblyAllele length
hg38645
hg19645
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6754607, essv6845017, essv6969443, essv6929274, essv6915126, essv6697969, essv6808489, essv6796176, essv6865664, essv6926871, essv6761564, essv6963826, essv6974887, essv6951974, essv6814387, essv6737015, essv6855324, essv6748806, essv6745994, essv6778262, essv6734406, essv6794726, essv6911411, essv6671195, essv6881476, essv6805495, essv6730941, essv6760093, essv6947870, essv6802622, essv6679310, essv6790578, essv6694219, essv6961851, essv6680459, essv6811379, essv6715594, essv6896818, essv6895709, essv6841326, essv6767602, essv6860946, essv6887059, essv6893594, essv6888510, essv6705094, essv6711906, essv6719501, essv6957108, essv6830233, essv6930505, essv6798927, essv6740034, essv6923134, essv6751650
SamplesSSM008, SSM071, SSM027, SSM024, SSM075, SSM064, SSM087, SSM038, SSM009, SSM073, SSM050, SSM074, SSM042, SSM088, SSM002, SSM057, SSM058, SSM028, SSM084, SSM047, SSM018, SSM061, SSM029, SSM096, SSM026, SSM089, SSM019, SSM094, SSM003, SSM031, SSM067, SSM044, SSM033, SSM085, SSM081, SSM040, SSM072, SSM020, SSM015, SSM016, SSM005, SSM037, SSM077, SSM076, SSM055, SSM070, SSM025, SSM004, SSM099, SSM043, SSM052, SSM098, SSM049, SSM056, 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)esv2732460
Frequency
Sample Size96
Observed Gain0
Observed Loss55
Observed Complex0
Frequencyn/a


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