A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6842692



Internal ID9895219
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:113786358..113786836hg38UCSC Ensembl
Outerchr13:114489331..114489809hg19UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg38479
hg19479
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2748367
Supporting Variants
SamplesSSM084
Known GenesTMEM255B
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)essv6842692
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