A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6924474



Internal ID9687178
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:29491984..29492435hg38UCSC Ensembl
Outerchr13:30066121..30066572hg19UCSC Ensembl
Cytoband13q12.3
Allele length
AssemblyAllele length
hg38452
hg19452
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2747207
Supporting Variants
SamplesSSM018
Known GenesMTUS2
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)essv6924474
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