A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16477230



Internal ID19340790
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:131740888..131740888hg38UCSC Ensembl
chr11:131610782..131610782hg19UCSC Ensembl
Cytoband11q25
Allele length
AssemblyAllele length
hg38229
hg19229
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3653362
Supporting Variants
Samples
Known GenesNTM
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)essv16477230
Frequency
Sample Size20
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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