A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6924960



Internal ID10034764
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:3867794..3868574hg38UCSC Ensembl
Outerchr17:3771088..3771868hg19UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg38781
hg19781
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2715534
Supporting Variants
SamplesSSM018
Known GenesCAMKK1
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)essv6924960
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