A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2746916



Internal ID9981200
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:132148984..132150678hg38UCSC Ensembl
Outerchr12:132633529..132635223hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg381695
hg191695
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6900708, essv6897723, essv6838717, essv6761060
SamplesSSM061, SSM099, SSM083, SSM100
Known GenesNOC4L
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)esv2746916
Frequency
Sample Size96
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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