A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3671187



Internal ID19389195
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:36033358..36033358hg38UCSC Ensembl
chr1:36498959..36498959hg19UCSC Ensembl
Cytoband1p34.3
Allele length
AssemblyAllele length
hg3866
hg1966
Variant TypeCNV novel sequence insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16493273
Samples
Known GenesAGO3
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)esv3671187
Frequency
Sample Size20
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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