A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2745627



Internal ID3293579
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:21894136..21895235hg38UCSC Ensembl
Outerchr12:22047070..22048169hg19UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg381100
hg191100
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6673141, essv6668208, essv6758228, essv6879490, essv6765766, essv6873685, essv6819682, essv6857186, essv6735184
SamplesSSM091, SSM078, SSM031, SSM093, SSM030, SSM063, SSM087, SSM049, SSM059
Known GenesABCC9
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)esv2745627
Frequency
Sample Size96
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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