A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6966269



Internal ID9724937
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:63420813..63421073hg38UCSC Ensembl
Outerchr14:63887531..63887791hg19UCSC Ensembl
Cytoband14q23.2
Allele length
AssemblyAllele length
hg38261
hg19261
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2748776
Supporting Variants
SamplesSSM027
Known GenesPPP2R5E
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)essv6966269
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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