A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6783659



Internal ID10187246
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:131383016..131383220hg38UCSC Ensembl
Outerchr12:131867561..131867765hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg38205
hg19205
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2746855, esv2746835, esv2746849, esv2746854
Supporting Variants
SamplesSSM068
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)essv6783659
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