A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2746190



Internal ID9980474
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:91620377..91620567hg38UCSC Ensembl
Outerchr12:92014154..92014344hg19UCSC Ensembl
Cytoband12q21.33
Allele length
AssemblyAllele length
hg38191
hg19191
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6936182
SamplesSSM021
Known Genes
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)esv2746190
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