A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2743929



Internal ID9978213
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:1429065..1429516hg38UCSC Ensembl
Outerchr11:1450295..1450746hg19UCSC Ensembl
Cytoband11p15.5
Allele length
AssemblyAllele length
hg38452
hg19452
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6965470, essv6856900, essv6842263
SamplesSSM027, SSM087, SSM084
Known GenesBRSK2
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)esv2743929
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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