A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2738561



Internal ID10322197
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:74909175..74909478hg38UCSC Ensembl
Outerchr9:77524091..77524394hg19UCSC Ensembl
Cytoband9q21.13
Allele length
AssemblyAllele length
hg38304
hg19304
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6884777, essv6806026, essv6976242, essv6684299, essv6677350, essv6935052, essv6795540, essv6681147, essv6724035, essv6705784, essv6900290, essv6731649, essv6856455, essv6881992, essv6768145, essv6970257, essv6783028, essv6841992, essv6819126, essv6720243, essv6967562, essv6712584, essv6755167, essv6958420, essv6727879, essv6695036, essv6803153, essv6838180, essv6894241, essv6823175, essv6915729, essv6919667, essv6850438, essv6740659, essv6811888, essv6791363, essv6904475, essv6691195, essv6939848, essv6799724, essv6908398, essv6897303, essv6866545, essv6809019, essv6861886, essv6778986, essv6802044, essv6923822, essv6787258, essv6912116, essv6965001, essv6887643, essv6894876, essv6709119, essv6716294, essv6873350, essv6927513, essv6771591, essv6845590
SamplesSSM100, SSM036, SSM083, SSM071, SSM027, SSM075, SSM045, SSM046, SSM011, SSM064, SSM079, SSM065, SSM087, SSM013, SSM009, SSM073, SSM074, SSM042, SSM041, SSM058, SSM028, SSM084, SSM047, SSM018, SSM069, SSM029, SSM096, SSM026, SSM089, SSM017, SSM019, SSM094, SSM032, SSM003, SSM067, SSM044, SSM014, SSM086, SSM033, SSM085, SSM068, SSM040, SSM072, SSM015, SSM078, SSM016, SSM005, SSM037, SSM076, SSM022, SSM091, SSM070, SSM095, SSM004, SSM099, SSM043, SSM052, 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)esv2738561
Frequency
Sample Size96
Observed Gain0
Observed Loss59
Observed Complex0
Frequencyn/a


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