A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2738877



Internal ID10322513
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:104638650..104638988hg38UCSC Ensembl
Outerchr9:107400931..107401269hg19UCSC Ensembl
Cytoband9q31.1
Allele length
AssemblyAllele length
hg38339
hg19339
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6806057, essv6823208, essv6834508, essv6965056, essv6795585, essv6904509, essv6861850, essv6779024, essv6884802, essv6935407, essv6720281, essv6771628, essv6731679, essv6827266, essv6724078, essv6684723, essv6850495, essv6709143, essv6856506, essv6830908, essv6701986, essv6799768, essv6923865, essv6716326, essv6677389, essv6887668, essv6809055, essv6908434, essv6862298, essv6803192, essv6672442, essv6948609, essv6815083, essv6687940
SamplesSSM071, SSM027, SSM024, SSM075, SSM045, SSM011, SSM079, SSM065, SSM087, SSM039, SSM013, SSM073, SSM074, SSM088, SSM041, SSM047, SSM018, SSM096, SSM035, SSM032, SSM003, SSM031, SSM067, SSM044, SSM014, SSM086, SSM081, SSM072, SSM082, SSM080, SSM077, SSM095, SSM034, SSM043
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)esv2738877
Frequency
Sample Size96
Observed Gain0
Observed Loss34
Observed Complex0
Frequencyn/a


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