A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2725112



Internal ID10308748
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:32765132..32766591hg38UCSC Ensembl
Outerchr3:32806624..32808083hg19UCSC Ensembl
Cytoband3p22.3
Allele length
AssemblyAllele length
hg381460
hg191460
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6899038, essv6704306, essv6875113, essv6693374, essv6926141, essv6906676, essv6667157, essv6891931, essv6942426, essv6933875, essv6886370, essv6869114, essv6821690, essv6968536, essv6844331, essv6833043, essv6700201, essv6793853, essv6881453, essv6781442, essv6722798, essv6840502, essv6679691, essv6722513, essv6753922, essv6711115, essv6711114, essv6951118, essv6748173, essv6736396, essv6718656, essv6917982, essv6733835, essv6947046, essv6753509, essv6942425, essv6707728, essv6817217, essv6689739, essv6854059, essv6697373, essv6820531, essv6730121, essv6821689, essv6766930, essv6742550, essv6698977, essv6914430, essv6886371, essv6955682, essv6892792, essv6847882, essv6896213, essv6880812, essv6892793, essv6973381, essv6954596, essv6777463, essv6773941, essv6764521, essv6938212, essv6829496, essv6689740, essv6751007, essv6726369, essv6899039, essv6903023, essv6807800, essv6802013, essv6922303, essv6770077, essv6714771, essv6759448, essv6762160
SamplesSSM100, SSM036, SSM008, SSM071, SSM024, SSM075, SSM045, SSM046, SSM064, SSM079, SSM065, SSM087, SSM038, SSM039, SSM013, SSM073, SSM050, SSM042, SSM002, SSM041, SSM057, SSM023, SSM058, SSM028, SSM092, SSM084, SSM090, SSM021, SSM047, SSM018, SSM061, SSM029, SSM096, SSM062, SSM026, SSM017, SSM019, SSM094, SSM067, SSM044, SSM001, SSM014, SSM086, SSM033, SSM066, SSM006, SSM085, SSM068, SSM081, SSM040, SSM007, SSM078, SSM016, SSM053, SSM037, SSM022, SSM010, SSM025, SSM004, SSM099, SSM043, SSM098, SSM049, SSM056, SSM030, SSM063, SSM012
Known GenesCNOT10
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)esv2725112
Frequency
Sample Size96
Observed Gain0
Observed Loss67
Observed Complex0
Frequencyn/a


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