A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2746391



Internal ID9980675
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:113938244..113938649hg38UCSC Ensembl
Outerchr12:114376049..114376454hg19UCSC Ensembl
Cytoband12q24.21
Allele length
AssemblyAllele length
hg38406
hg19406
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6806437, essv6688352, essv6791908
SamplesSSM035, SSM074, SSM070
Known GenesRBM19
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)esv2746391
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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