A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3683705



Internal ID19401713
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:66379883..66380244hg38UCSC Ensembl
chr16:66413786..66414147hg19UCSC Ensembl
Cytoband16q21
Allele length
AssemblyAllele length
hg38362
hg19362
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16463812
Samples
Known GenesCDH5
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)esv3683705
Frequency
Sample Size20
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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