A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2747016



Internal ID10327986
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:132563778..132563921hg38UCSC Ensembl
Outerchr12:133140364..133140507hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg38144
hg19144
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6812298, essv6857381
SamplesSSM087, SSM076
Known GenesFBRSL1
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)esv2747016
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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