A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2746656



Internal ID10327626
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:128658056..128658201hg38UCSC Ensembl
Outerchr12:129142601..129142746hg19UCSC Ensembl
Cytoband12q24.32
Allele length
AssemblyAllele length
hg38146
hg19146
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6959405, essv6862494, essv6673283, essv6977360, essv6965915, essv6908970, essv6857340, essv6803568
SamplesSSM027, SSM087, SSM073, SSM088, SSM029, SSM026, SSM031, SSM014
Known GenesTMEM132C
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)esv2746656
Frequency
Sample Size96
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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