A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6673637



Internal ID9743200
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:63420841..63421063hg38UCSC Ensembl
Outerchr14:63887559..63887781hg19UCSC Ensembl
Cytoband14q23.2
Allele length
AssemblyAllele length
hg38223
hg19223
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2748776
Supporting Variants
SamplesSSM031
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)essv6673637
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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