A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2743923



Internal ID9978207
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:1412045..1412415hg38UCSC Ensembl
Outerchr11:1433275..1433645hg19UCSC Ensembl
Cytoband11p15.5
Allele length
AssemblyAllele length
hg38371
hg19371
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv130e201
Supporting Variantsessv6720506, essv6831121, essv6965469, essv6806222, essv6815296, essv6894483, essv6927761, essv6882173, essv6746680, essv6970588, essv6749533, essv6897543, essv6819469, essv6716604, essv6845802, essv6770109, essv6897503, essv6912402, essv6737744, essv6884949, essv6891093, essv6870576
SamplesSSM008, SSM027, SSM097, SSM050, SSM074, SSM028, SSM090, SSM019, SSM094, SSM044, SSM085, SSM081, SSM015, SSM078, SSM077, SSM055, SSM095, SSM099, SSM043, SSM098, SSM056, SSM012
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)esv2743923
Frequency
Sample Size96
Observed Gain0
Observed Loss22
Observed Complex0
Frequencyn/a


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