A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6838888



Internal ID9891983
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:63395655..63395866hg38UCSC Ensembl
Outerchr14:63862373..63862584hg19UCSC Ensembl
Cytoband14q23.2
Allele length
AssemblyAllele length
hg38212
hg19212
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2748775
Supporting Variants
SamplesSSM083
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)essv6838888
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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