A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2746398



Internal ID10327368
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:114063857..114064187hg38UCSC Ensembl
Outerchr12:114501662..114501992hg19UCSC Ensembl
Cytoband12q24.21
Allele length
AssemblyAllele length
hg38331
hg19331
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6977323, essv6783624, essv6949153, essv6965880, essv6970872, essv6838675, essv6857308
SamplesSSM083, SSM027, SSM024, SSM087, SSM028, SSM029, SSM068
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)esv2746398
Frequency
Sample Size96
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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