A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2738534



Internal ID9972874
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:69189552..69190078hg38UCSC Ensembl
Outerchr9:71804468..71804994hg19UCSC Ensembl
Cytoband9q21.11
Allele length
AssemblyAllele length
hg38527
hg19527
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6884774, essv6850429, essv6897300, essv6887640, essv6684674, essv6684266, essv6803149, essv6681142, essv6931309, essv6677347, essv6692376, essv6964996, essv6823171, essv6894832, essv6861853, essv6830868, essv6731644, essv6900287, essv6691194, essv6765486, essv6841989, essv6768140, essv6687905, essv6919661, essv6757905, essv6879161, essv6881988, essv6720239, essv6734854, essv6740652, essv6809015, essv6952726, essv6698440, essv6838178, essv6967518, essv6894237, essv6970253, essv6724030
SamplesSSM007, SSM027, SSM086, SSM036, SSM033, SSM084, SSM099, SSM064, SSM035, SSM025, SSM020, SSM001, SSM032, SSM045, SSM094, SSM083, SSM005, SSM012, SSM093, SSM100, SSM017, SSM011, SSM028, SSM095, SSM047, SSM073, SSM034, SSM063, SSM038, SSM096, SSM079, SSM052, SSM044, SSM004, SSM075, SSM098, SSM059, SSM081
Known GenesTJP2
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)esv2738534
Frequency
Sample Size96
Observed Gain0
Observed Loss38
Observed Complex0
Frequencyn/a


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