A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2745868



Internal ID9980152
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:49878678..49880006hg38UCSC Ensembl
Outerchr12:50272461..50273789hg19UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg381329
hg191329
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6772068, essv6897667, essv6765781, essv6735202, essv6815484, essv6732148, essv6904931, essv6831324, essv6899521, essv6971551, essv6755571, essv6711221, essv6687555, essv6772067, essv6959295
SamplesSSM065, SSM013, SSM058, SSM047, SSM026, SSM006, SSM081, SSM005, SSM077, SSM004, SSM099, SSM049, SSM063, SSM012
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)esv2745868
Frequency
Sample Size96
Observed Gain0
Observed Loss14
Observed Complex0
Frequencyn/a


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