A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2743045



Internal ID10297161
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:7842499..7958750hg38UCSC Ensembl
Outerchr12:7995095..8111346hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38116252
hg19116252
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv167e201
Supporting Variantsessv6940300
SamplesSSM022
Known GenesSLC2A14, SLC2A3
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)esv2743045
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