A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6702438



Internal ID9767476
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:11105933..11106263hg38UCSC Ensembl
Outerchr12:11258532..11258862hg19UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg38331
hg19331
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2745551, esv2745547, esv2745549
Supporting Variants
SamplesSSM039
Known GenesPRH1-PRR4
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)essv6702438
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