A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6903008



Internal ID9668105
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:12154836..12155243hg38UCSC Ensembl
Outerchr3:12196336..12196743hg19UCSC Ensembl
Cytoband3p25.2
Allele length
AssemblyAllele length
hg38408
hg19408
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2724931, esv2724927, esv2724925
Supporting Variants
SamplesSSM013
Known GenesSYN2, TIMP4
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)essv6903008
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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