A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2725216



Internal ID10308852
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:45031342..45032234hg38UCSC Ensembl
Outerchr3:45072834..45073726hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg38893
hg19893
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6892802, essv6878050, essv6689746, essv6675731, essv6883649, essv6813638, essv6821697, essv6836696, essv6973398, essv6722527, essv6825580, essv6880822, essv6714780, essv6820598, essv6854074, essv6864649, essv6910603, essv6700215, essv6847902, essv6914437, essv6789121, essv6770084, essv6693384, essv6951127, essv6917991, essv6896221, essv6875121, essv6955702, essv6759452, essv6707739, essv6833085, essv6722876, essv6881598, essv6933887, essv6899048, essv6711129, essv6704314, essv6730130, essv6926149, essv6922312, essv6844340, essv6921451, essv6773948, essv6748178, essv6929664, essv6942441, essv6840507, essv6789726, essv6804837, essv6938219, essv6753609, essv6751013, essv6781455, essv6968544, essv6903032, essv6745333, essv6954662, essv6829505, essv6793860, essv6962443, essv6947057, essv6766940, essv6739308, essv6802019, essv6859861, essv6669858, essv6886378, essv6777470, essv6697381, essv6798034, essv6679699, essv6753933, essv6726381
SamplesSSM100, SSM036, SSM008, SSM083, SSM071, SSM027, SSM024, SSM045, SSM046, SSM064, SSM079, SSM065, SSM087, SSM038, SSM039, SSM013, SSM009, SSM073, SSM093, SSM074, SSM042, SSM088, SSM041, SSM057, SSM023, SSM058, SSM028, SSM092, SSM084, SSM021, SSM047, SSM018, SSM061, SSM029, SSM096, SSM026, SSM089, SSM017, SSM019, SSM094, SSM032, SSM003, SSM031, SSM067, SSM086, SSM033, SSM066, SSM085, SSM068, SSM081, SSM040, SSM072, SSM082, SSM020, SSM007, SSM015, SSM016, SSM080, SSM037, SSM077, SSM022, SSM010, SSM055, SSM070, SSM095, SSM025, SSM004, SSM099, SSM043, SSM052, SSM098, SSM056, SSM012
Known GenesCLEC3B
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)esv2725216
Frequency
Sample Size96
Observed Gain0
Observed Loss73
Observed Complex0
Frequencyn/a


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