A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3671894



Internal ID19043216
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:151252199..151252200hg38UCSC Ensembl
chr6:151573334..151573335hg19UCSC Ensembl
Cytoband6q25.1
Allele length
AssemblyAllele length
hg382
hg192
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16493908
Samples
Known GenesAKAP12
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)esv3671894
Frequency
Sample Size20
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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