A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16474640



Internal ID19338200
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:75534913..75534913hg38UCSC Ensembl
chr9:78149829..78149829hg19UCSC Ensembl
Cytoband9q21.13
Allele length
AssemblyAllele length
hg38100
hg19100
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3650485
Supporting Variants
Samples
Known GenesMIR548H3
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)essv16474640
Frequency
Sample Size20
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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