A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2744862



Internal ID10325832
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:87253459..87253845hg38UCSC Ensembl
Outerchr11:86964501..86964887hg19UCSC Ensembl
Cytoband11q14.2
Allele length
AssemblyAllele length
hg38387
hg19387
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6851023, essv6695453, essv6681493, essv6857059, essv6673004, essv6691517, essv6783483
SamplesSSM036, SSM087, SSM031, SSM086, SSM033, SSM068, SSM037
Known GenesTMEM135
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)esv2744862
Frequency
Sample Size96
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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