A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6850634



Internal ID10249052
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:11374543..11374662hg19UCSC Ensembl
Cytoband10p14
Allele length
AssemblyAllele length
hg19120
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2732951, esv2732940
Supporting Variants
SamplesSSM086
Known GenesCELF2
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)essv6850634
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