A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2743930



Internal ID9978214
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:1429609..1429841hg38UCSC Ensembl
Outerchr11:1450839..1451071hg19UCSC Ensembl
Cytoband11p15.5
Allele length
AssemblyAllele length
hg38233
hg19233
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6812074, essv6940123, essv6856901, essv6827502, essv6702239, essv6958959, essv6809217, essv6937374, essv6724307, essv6850871, essv6712823, essv6681408, essv6728149, essv6919968, essv6931633, essv6904732, essv6823437, essv6819470, essv6731928, essv6900485
SamplesSSM100, SSM075, SSM045, SSM046, SSM079, SSM087, SSM039, SSM013, SSM042, SSM047, SSM026, SSM017, SSM003, SSM086, SSM033, SSM020, SSM078, SSM080, SSM076, SSM022
Known GenesBRSK2
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)esv2743930
Frequency
Sample Size96
Observed Gain0
Observed Loss20
Observed Complex0
Frequencyn/a


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