A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2721268



Internal ID10304904
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:190454880..190454975hg38UCSC Ensembl
Outerchr2:191319606..191319701hg19UCSC Ensembl
Cytoband2q32.2
Allele length
AssemblyAllele length
hg3896
hg1996
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6825461
SamplesSSM080
Known GenesMFSD6
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)esv2721268
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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