A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2723339



Internal ID10306975
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:223030831..223031761hg38UCSC Ensembl
Outerchr1:223204173..223205103hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg38931
hg19931
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6898752, essv6895981, essv6818065, essv6874845, essv6829162, essv6793480, essv6773613, essv6726018, essv6670576, essv6699783, essv6692953, essv6747927, essv6807524, essv6786154, essv6892475, essv6720165, essv6929242, essv6877795, essv6847295, essv6836347, essv6925847, essv6753648, essv6946652, essv6844028, essv6789333, essv6759196, essv6689416, essv6810466, essv6812709, essv6933481, essv6951762, essv6853492, essv6707411, essv6742289, essv6710747, essv6871855, essv6738982, essv6797629, essv6686375, essv6917611, essv6821351, essv6972657, essv6921914, essv6968113, essv6825160, essv6914130, essv6745079, essv6878242, essv6750098, essv6718318, essv6729790, essv6769698, essv6804551, essv6736117, essv6941982, essv6801759, essv6937847, essv6864168, essv6777100, essv6785166, essv6886116, essv6859395, essv6714413, essv6813311, essv6832745, essv6868858, essv6750746, essv6910222, essv6697117, essv6955016, essv6902701, essv6675375, essv6679342, essv6682977, essv6883389, essv6845388, essv6704007, essv6840127, essv6781052, essv6669230, essv6961815, essv6950722, essv6696943, essv6918185, essv6722165
SamplesSSM100, SSM036, SSM008, SSM083, SSM071, SSM027, SSM024, SSM075, SSM045, SSM046, SSM011, SSM079, SSM065, SSM087, SSM038, SSM039, SSM013, SSM009, SSM073, SSM093, SSM050, SSM074, SSM042, SSM088, SSM002, SSM041, SSM057, SSM023, SSM058, SSM028, SSM092, SSM084, SSM090, SSM021, SSM047, SSM018, SSM069, SSM061, SSM029, SSM096, SSM026, SSM089, SSM017, SSM019, SSM032, SSM003, SSM031, SSM067, SSM044, SSM001, SSM086, SSM033, SSM066, SSM006, SSM085, SSM068, SSM081, SSM040, SSM072, SSM082, SSM020, SSM007, SSM015, SSM016, SSM053, SSM005, SSM080, SSM037, SSM077, SSM076, SSM022, SSM010, SSM091, SSM055, SSM070, SSM095, SSM025, SSM034, SSM004, SSM099, SSM043, SSM052, SSM098, SSM056, SSM012
Known Genes
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)esv2723339
Frequency
Sample Size96
Observed Gain0
Observed Loss85
Observed Complex0
Frequencyn/a


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