A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16478929



Internal ID18995803
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:102600019..102600019hg38UCSC Ensembl
chr13:103252369..103252369hg19UCSC Ensembl
Cytoband13q33.1
Allele length
AssemblyAllele length
hg3876
hg1976
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3655250
Supporting Variants
Samples
Known GenesTPP2
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)essv16478929
Frequency
Sample Size20
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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