A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2746853



Internal ID10327823
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:131382430..131382700hg38UCSC Ensembl
Outerchr12:131866975..131867245hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg38271
hg19271
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6806456, essv6838711, essv6965949, essv6842532
SamplesSSM083, SSM027, SSM074, SSM084
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)esv2746853
Frequency
Sample Size96
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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