A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2732759



Internal ID9967080
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:136278765..136282572hg38UCSC Ensembl
Outerchr6:136599903..136603710hg19UCSC Ensembl
Cytoband6q23.3
Allele length
AssemblyAllele length
hg383808
hg193808
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1017e201
Supporting Variantsessv6929562, essv6869850, essv6786493, essv6790604, essv6903808, essv6903809, essv6826798, essv6704476, essv6887092, essv6802649, essv6872850, essv6872849, essv6952002, essv6899786, essv6881506, essv6869849, essv6719537, essv6790605, essv6929551, essv6923162, essv6676674, essv6930543, essv6814417, essv6723319, essv6782307, essv6947901, essv6794758, essv6798964, essv6727211, essv6855374, essv6729675, essv6705127, essv6939117, essv6705126, essv6849286, essv6865711, essv6754635, essv6805526, essv6899785, essv6830269, essv6849285, essv6671256, essv6875815, essv6918927, essv6730971, essv6947902, essv6782308
SamplesSSM100, SSM071, SSM024, SSM045, SSM046, SSM087, SSM013, SSM073, SSM074, SSM058, SSM092, SSM090, SSM047, SSM018, SSM069, SSM096, SSM089, SSM017, SSM094, SSM032, SSM003, SSM031, SSM044, SSM086, SSM006, SSM068, SSM081, SSM040, SSM072, SSM020, SSM007, SSM077, SSM022, SSM010, SSM091, SSM070, SSM025
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)esv2732759
Frequency
Sample Size96
Observed Gain0
Observed Loss37
Observed Complex0
Frequencyn/a


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