A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2716233



Internal ID9950521
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:74801117..74801810hg38UCSC Ensembl
Outerchr17:72797256..72797949hg19UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg38694
hg19694
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6682255, essv6743854
SamplesSSM033, SSM007
Known GenesTMEM104
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)esv2716233
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer