A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16464157



Internal ID18981031
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:8885523..8885869hg38UCSC Ensembl
chr17:8788840..8789186hg19UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg38347
hg19347
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3687537
Supporting Variants
Samples
Known GenesPIK3R5
MethodSequencing
Analysisde novo assemblies produced from SoapDenovo2 were aligned to GRC37 using LAST and input into SoapAsmVar for population-wide structural variation detection. The method is described in the publication
PlatformIllumina HiSeq 2000
Comments
ReferenceBesenbacher_et_al_2015
Pubmed ID25597990
Accession Number(s)essv16464157
Frequency
Sample Size20
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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