A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2745893



Internal ID9980177
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:52692602..52693933hg38UCSC Ensembl
Outerchr12:53086386..53087717hg19UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg381332
hg191332
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6916146
SamplesSSM016
Known GenesKRT77
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)esv2745893
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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