A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3681692



Internal ID19399700
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:101241792..101244074hg38UCSC Ensembl
chr13:101894143..101896425hg19UCSC Ensembl
Cytoband13q33.1
Allele length
AssemblyAllele length
hg382283
hg192283
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16502727
Samples
Known GenesNALCN
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)esv3681692
Frequency
Sample Size20
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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