A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16468447



Internal ID19332007
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:1207524..1207660hg38UCSC Ensembl
chr4:1201312..1201448hg19UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg38137
hg19137
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3683745
Supporting Variants
Samples
Known GenesLOC100130872, SPON2
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)essv16468447
Frequency
Sample Size20
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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