A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2743987



Internal ID10324957
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:1950396..1950985hg38UCSC Ensembl
Outerchr11:1971626..1972215hg19UCSC Ensembl
Cytoband11p15.5
Allele length
AssemblyAllele length
hg38590
hg19590
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6724315, essv6904737, essv6894486, essv6695356, essv6709336, essv6866892, essv6970597, essv6831125, essv6728156, essv6815301, essv6672850, essv6783375, essv6691435, essv6927766, essv6944704, essv6948878, essv6681414, essv6915961, essv6823444, essv6838446, essv6716609, essv6791668, essv6879352, essv6800016, essv6706045, essv6842268, essv6958970, essv6900491, essv6862152, essv6720512, essv6976810, essv6864019, essv6845806, essv6850878, essv6702246, essv6931637, essv6795848, essv6870579
SamplesSSM100, SSM036, SSM083, SSM071, SSM024, SSM045, SSM046, SSM011, SSM079, SSM039, SSM013, SSM093, SSM088, SSM041, SSM023, SSM028, SSM084, SSM090, SSM029, SSM026, SSM089, SSM019, SSM031, SSM044, SSM086, SSM033, SSM085, SSM068, SSM081, SSM040, SSM072, SSM020, SSM016, SSM037, SSM077, SSM070, SSM043, SSM098
Known GenesMRPL23
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)esv2743987
Frequency
Sample Size96
Observed Gain0
Observed Loss38
Observed Complex0
Frequencyn/a


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