A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2738953



Internal ID10322589
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:113174796..113175121hg38UCSC Ensembl
Outerchr9:115937076..115937401hg19UCSC Ensembl
Cytoband9q32
Allele length
AssemblyAllele length
hg38326
hg19326
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6894279, essv6884812, essv6684731, essv6958501, essv6823216, essv6850510, essv6819180, essv6712633, essv6705825, essv6698473, essv6879207, essv6900327, essv6870433, essv6809066, essv6908441, essv6866600, essv6862398, essv6948619, essv6779033, essv6861862, essv6976316, essv6882022, essv6827274, essv6965075, essv6927556, essv6687950, essv6890909, essv6856525, essv6677397, essv6672457
SamplesSSM100, SSM027, SSM024, SSM075, SSM011, SSM079, SSM087, SSM038, SSM097, SSM093, SSM042, SSM088, SSM090, SSM029, SSM026, SSM089, SSM019, SSM035, SSM094, SSM032, SSM031, SSM067, SSM014, SSM086, SSM040, SSM078, SSM080, SSM095, SSM034, SSM098
Known GenesFKBP15
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)esv2738953
Frequency
Sample Size96
Observed Gain0
Observed Loss30
Observed Complex0
Frequencyn/a


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