A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2733346



Internal ID10316982
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:168316663..168317977hg38UCSC Ensembl
Outerchr6:168717343..168718657hg19UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg381315
hg191315
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1040e201
Supporting Variantsessv6875861, essv6918994, essv6711983, essv6889277, essv6743295, essv6930605, essv6896874, essv6926945, essv6881537, essv6969532, essv6704776, essv6890339, essv6694329, essv6808552, essv6911491, essv6751726, essv6837582, essv6760168, essv6719584, essv6903861, essv6855449, essv6911490, essv6770970, essv6731022, essv6679966, essv6962640, essv6887132, essv6762265, essv6687384, essv6727266, essv6856331, essv6975055, essv6947960, essv6690611, essv6943603, essv6861041, essv6872892, essv6694330, essv6757511, essv6805563, essv6952056, essv6841399, essv6830319, essv6900376, essv6884351, essv6794812, essv6865770, essv6705168, essv6723380, essv6963976, essv6915198, essv6827209, essv6943604, essv6811436, essv6719583, essv6676726, essv6782364, essv6767656, essv6822581, essv6849360, essv6701259, essv6671361, essv6799026, essv6963975, essv6786546, essv6833914, essv6814464, essv6845091, essv6893662, essv6676725, essv6878726, essv6869895
SamplesSSM059, SSM036, SSM008, SSM083, SSM071, SSM027, SSM024, SSM075, SSM045, SSM046, SSM011, SSM064, SSM079, SSM065, SSM087, SSM097, SSM039, SSM013, SSM093, SSM074, SSM042, SSM088, SSM002, SSM057, SSM023, SSM028, SSM092, SSM084, SSM090, SSM047, SSM069, SSM061, SSM029, SSM096, SSM089, SSM017, SSM019, SSM035, SSM094, SSM032, SSM031, SSM044, SSM086, SSM006, SSM085, SSM068, SSM081, SSM040, SSM072, SSM082, SSM020, SSM015, SSM016, SSM053, SSM005, SSM037, SSM077, SSM076, SSM010, SSM091, SSM095, SSM025, SSM004, SSM099, SSM098, SSM012
Known GenesDACT2
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)esv2733346
Frequency
Sample Size96
Observed Gain0
Observed Loss66
Observed Complex0
Frequencyn/a


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