A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2746114



Internal ID9980398
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:79877957..79879797hg38UCSC Ensembl
Outerchr12:80271737..80273577hg19UCSC Ensembl
Cytoband12q21.2
Allele length
AssemblyAllele length
hg381841
hg191841
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6741101, essv6940375, essv6738809, essv6737926, essv6752603, essv6924390, essv6920226, essv6720728, essv6673211, essv6809415, essv6944998, essv6885111, essv6744062, essv6897683
SamplesSSM022, SSM007, SSM053, SSM099, SSM031, SSM057, SSM050, SSM017, SSM095, SSM023, SSM052, SSM044, SSM075, SSM018
Known GenesPPP1R12A
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)esv2746114
Frequency
Sample Size96
Observed Gain0
Observed Loss14
Observed Complex0
Frequencyn/a


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