A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6695564



Internal ID9762366
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:49878226..49879480hg38UCSC Ensembl
Outerchr12:50272009..50273263hg19UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg381255
hg191255
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2745867
Supporting Variants
SamplesSSM037
Known GenesFAIM2
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)essv6695564
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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