A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2715622



Internal ID9949909
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:8885610..8885876hg38UCSC Ensembl
Outerchr17:8788927..8789193hg19UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg38267
hg19267
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6710026, essv6732804, essv6713577, essv6706790
SamplesSSM042, SSM041, SSM047, SSM040
Known GenesPIK3R5
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)esv2715622
Frequency
Sample Size96
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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