A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3679646



Internal ID19050968
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:99620275..99620339hg38UCSC Ensembl
chr10:101380032..101380096hg19UCSC Ensembl
Cytoband10q24.2
Allele length
AssemblyAllele length
hg3865
hg1965
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16500886
Samples
Known GenesSLC25A28
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)esv3679646
Frequency
Sample Size20
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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