A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6940337



Internal ID9701278
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:12373975..12375107hg38UCSC Ensembl
Outerchr12:12526909..12528041hg19UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg381133
hg191133
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2745567, esv2745568
Supporting Variants
SamplesSSM022
Known GenesLOH12CR1
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)essv6940337
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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