A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3673036



Internal ID19044358
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:108301097..108301169hg38UCSC Ensembl
chr12:108694874..108694946hg19UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg3873
hg1973
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16494936
Samples
Known GenesCMKLR1
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)esv3673036
Frequency
Sample Size20
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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