A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2745284



Internal ID9979568
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:132213717..132214054hg38UCSC Ensembl
Outerchr11:132083611..132083948hg19UCSC Ensembl
Cytoband11q25
Allele length
AssemblyAllele length
hg38338
hg19338
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6720630, essv6783517, essv6887970, essv6867083
SamplesSSM089, SSM096, SSM068, SSM044
Known GenesNTM
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)esv2745284
Frequency
Sample Size96
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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