A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2723544



Internal ID9957844
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:42283763..42284175hg38UCSC Ensembl
Outerchr21:43703873..43704285hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38413
hg19413
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6916196, essv6773354, essv6967805, essv6682763, essv6972203, essv6758999, essv6892240, essv6928979, essv6868653, essv6880378, essv6880377, essv6902446, essv6679067, essv6925604, essv6946393, essv6675106, essv6954604, essv6793190, essv6764127, essv6913915, essv6821096, essv6846910, essv6876108, essv6789038, essv6961378, essv6807319, essv6733417, essv6824881, essv6813109, essv6810291, essv6721906, essv6888945, essv6859083, essv6853113, essv6832495, essv6950447, essv6747765, essv6941686, essv6780763, essv6744893, essv6718420, essv6756496, essv6917339, essv6725749, essv6769435, essv6871657, essv6898550, essv6949551, essv6686096, essv6696934, essv6666819, essv6839872, essv6742085, essv6729530, essv6885925, essv6747728, essv6699529, essv6776837, essv6836083, essv6695343, essv6863856, essv6707206
SamplesSSM065, SSM022, SSM007, SSM027, SSM053, SSM082, SSM086, SSM006, SSM055, SSM033, SSM099, SSM040, SSM078, SSM088, SSM089, SSM090, SSM064, SSM031, SSM025, SSM016, SSM032, SSM024, SSM045, SSM067, SSM083, SSM097, SSM062, SSM005, SSM012, SSM093, SSM085, SSM011, SSM066, SSM028, SSM029, SSM003, SSM095, SSM047, SSM069, SSM002, SSM037, SSM034, SSM087, SSM038, SSM046, SSM019, SSM096, SSM023, SSM079, SSM052, SSM044, SSM074, SSM075, SSM015, SSM026, SSM018, SSM076, SSM058, SSM059, SSM081, SSM070
Known GenesABCG1
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)esv2723544
Frequency
Sample Size96
Observed Gain0
Observed Loss61
Observed Complex0
Frequencyn/a


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