A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16469994



Internal ID19333554
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:48521320..48521391hg38UCSC Ensembl
chr12:48915103..48915174hg19UCSC Ensembl
Cytoband12q13.11
Allele length
AssemblyAllele length
hg3872
hg1972
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3685463
Supporting Variants
Samples
Known Genes
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)essv16469994
Frequency
Sample Size20
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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