A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6971548



Internal ID9727088
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:30905867..30906324hg38UCSC Ensembl
Outerchr17:29232885..29233342hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg38458
hg19458
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2715813, esv2715816
Supporting Variants
SamplesSSM028
Known GenesTEFM
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)essv6971548
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