A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2739314



Internal ID10322950
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:135981357..135982280hg38UCSC Ensembl
Outerchr9:138873203..138874126hg19UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg38924
hg19924
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6897356, essv6842058, essv6876370, essv6806088, essv6712659, essv6795627, essv6856582, essv6923904, essv6779071, essv6684756, essv6677430, essv6861901, essv6735454, essv6838250, essv6802698, essv6791442, essv6952810, essv6727956, essv6716369, essv6879221, essv6850552, essv6681217, essv6866638, essv6799813, essv6737613, essv6720314, essv6919747, essv6672512, essv6724117, essv6900345, essv6787346, essv6731721, essv6935796, essv6708732, essv6768206, essv6697598, essv6894313, essv6884832, essv6775344, essv6958571, essv6783125
SamplesSSM100, SSM083, SSM071, SSM045, SSM046, SSM064, SSM087, SSM009, SSM093, SSM050, SSM074, SSM042, SSM088, SSM092, SSM084, SSM047, SSM018, SSM069, SSM026, SSM089, SSM017, SSM032, SSM003, SSM031, SSM067, SSM044, SSM001, SSM086, SSM033, SSM066, SSM006, SSM068, SSM072, SSM007, SSM070, SSM095, SSM025, SSM034, SSM099, SSM043, SSM098
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)esv2739314
Frequency
Sample Size96
Observed Gain0
Observed Loss41
Observed Complex0
Frequencyn/a


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