A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3660117



Internal ID19378125
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:47494735..47494735hg38UCSC Ensembl
chr19:47997992..47997992hg19UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg3891
hg1991
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16483308
Samples
Known GenesNAPA, NAPA-AS1
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)esv3660117
Frequency
Sample Size20
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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