A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3673633



Internal ID19391641
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:44767354..44767369hg38UCSC Ensembl
chr17:42844722..42844737hg19UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg3816
hg1916
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16495473
Samples
Known GenesADAM11
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)esv3673633
Frequency
Sample Size20
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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