A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6929787



Internal ID9691744
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:192219681..192270893hg38UCSC Ensembl
Outerchr3:191937470..191988682hg19UCSC Ensembl
Cytoband3q28
Allele length
AssemblyAllele length
hg3851213
hg1951213
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2726410
Supporting Variants
SamplesSSM020
Known GenesFGF12
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)essv6929787
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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