A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2746390



Internal ID9980674
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:113938165..113938913hg38UCSC Ensembl
Outerchr12:114375970..114376718hg19UCSC Ensembl
Cytoband12q24.21
Allele length
AssemblyAllele length
hg38749
hg19749
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6688352, essv6806437, essv6936204, essv6772786, essv6977321, essv6806298, essv6791908, essv6779527
SamplesSSM008, SSM009, SSM074, SSM021, SSM029, SSM035, SSM067, 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)esv2746390
Frequency
Sample Size96
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer