A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2748604



Internal ID10329574
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:36755625..36757389hg38UCSC Ensembl
Outerchr14:37224830..37226594hg19UCSC Ensembl
Cytoband14q13.3
Allele length
AssemblyAllele length
hg381765
hg191765
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6928147
SamplesSSM019
Known GenesSLC25A21
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)esv2748604
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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