A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16483584



Internal ID19347144
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:4225428..4225428hg38UCSC Ensembl
chr20:4206075..4206075hg19UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg3860
hg1960
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3660423
Supporting Variants
Samples
Known GenesADRA1D
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)essv16483584
Frequency
Sample Size20
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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