A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2748676



Internal ID9982960
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:45126281..45128224hg38UCSC Ensembl
Outerchr14:45595484..45597427hg19UCSC Ensembl
Cytoband14q21.2
Allele length
AssemblyAllele length
hg381944
hg191944
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6792137
SamplesSSM070
Known GenesFKBP3
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)esv2748676
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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