A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2744096



Internal ID10325066
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:9705404..9706284hg38UCSC Ensembl
Outerchr11:9726951..9727831hg19UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg38881
hg19881
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6931648, essv6737020, essv6770287, essv6912422, essv6763274
SamplesSSM008, SSM062, SSM020, SSM007, SSM015
Known GenesSWAP70
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)esv2744096
Frequency
Sample Size96
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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