A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2749014



Internal ID9983298
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:91044312..91044467hg38UCSC Ensembl
Outerchr14:91510656..91510811hg19UCSC Ensembl
Cytoband14q32.11
Allele length
AssemblyAllele length
hg38156
hg19156
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6796334, essv6870956
SamplesSSM090, SSM071
Known GenesRPS6KA5
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)esv2749014
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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