A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3654903



Internal ID19026225
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:48245078..48245078hg38UCSC Ensembl
chr13:48819214..48819214hg19UCSC Ensembl
Cytoband13q14.2
Allele length
AssemblyAllele length
hg3865
hg1965
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16478616
Samples
Known GenesITM2B
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)esv3654903
Frequency
Sample Size20
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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