A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3649475



Internal ID19367483
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:63437788..63437961hg38UCSC Ensembl
chr17:61515149..61515322hg19UCSC Ensembl
Cytoband17q23.3
Allele length
AssemblyAllele length
hg38174
hg19174
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16464344
Samples
Known GenesCYB561
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)esv3649475
Frequency
Sample Size20
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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