A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2748535



Internal ID10329505
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:29647953..29650896hg38UCSC Ensembl
Outerchr14:30117159..30120102hg19UCSC Ensembl
Cytoband14q12
Allele length
AssemblyAllele length
hg382944
hg192944
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6740265, essv6712643
SamplesSSM006, SSM007
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)esv2748535
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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