A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2744760



Internal ID10325730
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:71887368..71909934hg38UCSC Ensembl
Outerchr11:71598414..71620980hg19UCSC Ensembl
Cytoband11q13.4
Allele length
AssemblyAllele length
hg3822567
hg1922567
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6857041
SamplesSSM087
Known GenesLOC100133315
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)esv2744760
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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