A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2749253



Internal ID10330223
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:104905952..104906954hg38UCSC Ensembl
Outerchr14:105372289..105373291hg19UCSC Ensembl
Cytoband14q32.33
Allele length
AssemblyAllele length
hg381003
hg191003
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6835186, essv6971185
SamplesSSM028, SSM082
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)esv2749253
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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