A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16467307



Internal ID19330867
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:18925790..18926002hg38UCSC Ensembl
chr1:19252284..19252496hg19UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg38213
hg19213
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3682397
Supporting Variants
Samples
Known GenesIFFO2
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)essv16467307
Frequency
Sample Size20
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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