A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16486518



Internal ID19350078
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:183160848..183160848hg38UCSC Ensembl
chr2:184025576..184025576hg19UCSC Ensembl
Cytoband2q32.1
Allele length
AssemblyAllele length
hg3874
hg1974
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3663683
Supporting Variants
Samples
Known GenesNUP35
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)essv16486518
Frequency
Sample Size20
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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