A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6815727



Internal ID10217635
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:96745517..96745958hg38UCSC Ensembl
Outerchr14:97211854..97212295hg19UCSC Ensembl
Cytoband14q32.2
Allele length
AssemblyAllele length
hg38442
hg19442
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2749076, esv2749075
Supporting Variants
SamplesSSM077
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)essv6815727
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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