A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6857232



Internal ID9908306
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:49878110..49879288hg38UCSC Ensembl
Outerchr12:50271893..50273071hg19UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg381179
hg191179
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2745867
Supporting Variants
SamplesSSM087
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)essv6857232
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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