A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6792137



Internal ID9849823
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 StatusS
Merged Variantsesv2748676
Supporting Variants
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)essv6792137
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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