A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3658045



Internal ID19029367
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:28277897..28277897hg38UCSC Ensembl
chr17:26604923..26604923hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg38397
hg19397
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16481444
Samples
Known GenesKRT18P55
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)esv3658045
Frequency
Sample Size20
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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