A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3683027



Internal ID19401035
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:50579111..50579739hg38UCSC Ensembl
chr16:50613022..50613650hg19UCSC Ensembl
Cytoband16q12.1
Allele length
AssemblyAllele length
hg38629
hg19629
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16463751
Samples
Known GenesNKD1
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)esv3683027
Frequency
Sample Size20
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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