A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2744047



Internal ID10325017
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:3791974..3792160hg38UCSC Ensembl
Outerchr11:3813204..3813390hg19UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg38187
hg19187
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6912414, essv6931643, essv6771895
SamplesSSM065, SSM020, SSM015
Known GenesNUP98
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)esv2744047
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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