A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3681747



Internal ID19399755
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:16717991..16718062hg38UCSC Ensembl
chr5:16718100..16718171hg19UCSC Ensembl
Cytoband5p15.1
Allele length
AssemblyAllele length
hg3872
hg1972
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16502777
Samples
Known GenesMYO10
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)esv3681747
Frequency
Sample Size20
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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