A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2731982



Internal ID10315618
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:41985516..41985945hg38UCSC Ensembl
Outerchr6:41953254..41953683hg19UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg38430
hg19430
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6798875, essv6690472, essv6974788, essv6849140, essv6915087, essv6680404, essv6875733, essv6818228, essv6728965, essv6711852, essv6951916, essv6770840, essv6923084, essv6697917, essv6954595, essv6957016, essv6841270, essv6774601, essv6837440, essv6790523, essv6667569, essv6943447, essv6715537, essv6743181, essv6926825, essv6918843, essv6767550, essv6676583, essv6911353, essv6723250, essv6872773, essv6896778, essv6795632, essv6939027, essv6760044, essv6754547, essv6928684, essv6826142, essv6748753, essv6860880, essv6811323, essv6761043, essv6893541, essv6794661, essv6891043, essv6903733
SamplesSSM036, SSM008, SSM083, SSM071, SSM045, SSM064, SSM065, SSM038, SSM013, SSM009, SSM042, SSM088, SSM002, SSM023, SSM058, SSM092, SSM084, SSM018, SSM061, SSM029, SSM026, SSM017, SSM019, SSM032, SSM003, SSM001, SSM086, SSM033, SSM066, SSM072, SSM007, SSM015, SSM078, SSM016, SSM053, SSM076, SSM022, SSM010, SSM091, SSM070, SSM025, SSM099, SSM043, SSM098, SSM056, SSM030
Known GenesCCND3
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)esv2731982
Frequency
Sample Size96
Observed Gain0
Observed Loss46
Observed Complex0
Frequencyn/a


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