A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2746312



Internal ID9980596
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:104021910..104022039hg38UCSC Ensembl
Outerchr12:104415688..104415817hg19UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg38130
hg19130
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6834941
SamplesSSM082
Known GenesGLT8D2
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)esv2746312
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