A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6953568



Internal ID10058009
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:102410286..102411779hg38UCSC Ensembl
Outerchr14:102876623..102878116hg19UCSC Ensembl
Cytoband14q32.31
Allele length
AssemblyAllele length
hg381494
hg191494
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2749150
Supporting Variants
SamplesSSM025
Known GenesTECPR2
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)essv6953568
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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