A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6740265



Internal ID9998971
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:29648004..29650802hg38UCSC Ensembl
Outerchr14:30117210..30120008hg19UCSC Ensembl
Cytoband14q12
Allele length
AssemblyAllele length
hg382799
hg192799
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2748535
Supporting Variants
SamplesSSM007
Known GenesMIR548AI, PRKD1
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)essv6740265
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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