A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6808509



Internal ID10003874
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:96745296..96746019hg38UCSC Ensembl
Outerchr14:97211633..97212356hg19UCSC Ensembl
Cytoband14q32.2
Allele length
AssemblyAllele length
hg38724
hg19724
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2749075
Supporting Variants
SamplesSSM009
Known Genes
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)essv6808509
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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