A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3680689



Internal ID19398697
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:1933149..1933235hg38UCSC Ensembl
chr12:2042315..2042401hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg3887
hg1987
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16501824
Samples
Known GenesLINC00940
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)esv3680689
Frequency
Sample Size20
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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