A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16487893



Internal ID19004767
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:139475324..139475324hg38UCSC Ensembl
chr3:139194166..139194166hg19UCSC Ensembl
Cytoband3q23
Allele length
AssemblyAllele length
hg3871
hg1971
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3665210
Supporting Variants
Samples
Known GenesRBP2
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)essv16487893
Frequency
Sample Size20
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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