A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6718712



Internal ID10132687
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:109329105..109330513hg38UCSC Ensembl
Outerchr3:109047952..109049360hg19UCSC Ensembl
Cytoband3q13.13
Allele length
AssemblyAllele length
hg381409
hg191409
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2725759
Supporting Variants
SamplesSSM044
Known GenesDPPA4
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)essv6718712
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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