A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16477501



Internal ID19341061
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:30552465..30552465hg38UCSC Ensembl
chr12:30705398..30705398hg19UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg3865
hg1965
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3653665
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)essv16477501
Frequency
Sample Size20
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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