A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2739223



Internal ID9973564
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:134523871..134524999hg38UCSC Ensembl
Outerchr9:137415717..137416845hg19UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg381129
hg191129
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6803215, essv6976375, essv6768353, essv6709178, essv6908468, essv6783117, essv6856572, essv6720311, essv6677428, essv6799802, essv6705849, essv6838246, essv6958554, essv6702028, essv6890934, essv6709177, essv6672501, essv6866631, essv6842047, essv6819216, essv6850545, essv6724110, essv6861894, essv6850544, essv6698490, essv6702027, essv6965120, essv6687975
SamplesSSM008, SSM083, SSM027, SSM045, SSM087, SSM038, SSM097, SSM039, SSM073, SSM088, SSM041, SSM084, SSM029, SSM026, SSM089, SSM035, SSM032, SSM031, SSM044, SSM014, SSM086, SSM068, SSM040, SSM072, SSM078
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)esv2739223
Frequency
Sample Size96
Observed Gain0
Observed Loss25
Observed Complex0
Frequencyn/a


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