A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16480131



Internal ID18997005
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:73690969..73690969hg38UCSC Ensembl
chr15:73983310..73983310hg19UCSC Ensembl
Cytoband15q24.1
Allele length
AssemblyAllele length
hg38320
hg19320
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3656586
Supporting Variants
Samples
Known GenesCD276
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)essv16480131
Frequency
Sample Size20
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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