A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2723316



Internal ID10306952
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:29179879..29180255hg38UCSC Ensembl
Outerchr21:30552200..30552576hg19UCSC Ensembl
Cytoband21q21.3
Allele length
AssemblyAllele length
hg38377
hg19377
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6733395, essv6699519, essv6909954, essv6821069, essv6753441, essv6784863, essv6895759, essv6839852, essv6901533, essv6832475, essv6961338, essv6813096, essv6898535, essv6913890, essv6902431, essv6793173, essv6925588, essv6967772, essv6874628, essv6666786, essv6853081, essv6689180, essv6675078, essv6729514, essv6868631, essv6789020, essv6725733, essv6810278, essv6863832, essv6941665, essv6714129, essv6686077, essv6871645, essv6949374, essv6824862, essv6776826, essv6917319, essv6780739, essv6801523, essv6888929, essv6880359, essv6668587, essv6875964, essv6885914, essv6843788, essv6797329, essv6703741
SamplesSSM100, SSM083, SSM071, SSM027, SSM075, SSM045, SSM046, SSM011, SSM079, SSM038, SSM039, SSM093, SSM042, SSM088, SSM057, SSM084, SSM090, SSM047, SSM018, SSM069, SSM029, SSM096, SSM026, SSM089, SSM035, SSM003, SSM031, SSM067, SSM014, SSM086, SSM066, SSM068, SSM081, SSM072, SSM015, SSM078, SSM016, SSM076, SSM022, SSM091, SSM070, SSM095, SSM034, SSM004, SSM099, SSM098, 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)esv2723316
Frequency
Sample Size96
Observed Gain0
Observed Loss47
Observed Complex0
Frequencyn/a


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