A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6945073



Internal ID10053691
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:132563589..132564056hg38UCSC Ensembl
Outerchr12:133140175..133140642hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg38468
hg19468
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2747015, esv2747014
Supporting Variants
SamplesSSM023
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)essv6945073
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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