A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6908976



Internal ID10018459
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:132499204..132499297hg38UCSC Ensembl
Outerchr12:133075790..133075883hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg3894
hg1994
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2747003, esv2747004
Supporting Variants
SamplesSSM014
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)essv6908976
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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