A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2748529



Internal ID10329499
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:28501330..28526997hg38UCSC Ensembl
Outerchr14:28970536..28996203hg19UCSC Ensembl
Cytoband14q12
Allele length
AssemblyAllele length
hg3825668
hg1925668
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6959711
SamplesSSM026
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)esv2748529
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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