A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16478542



Internal ID18995416
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:36227543..36227543hg38UCSC Ensembl
chr13:36801680..36801680hg19UCSC Ensembl
Cytoband13q13.3
Allele length
AssemblyAllele length
hg38128
hg19128
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3654821
Supporting Variants
Samples
Known GenesCCDC169, CCDC169-SOHLH2
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)essv16478542
Frequency
Sample Size20
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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