A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16468783



Internal ID19332343
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:70481421..70481491hg38UCSC Ensembl
chr4:71347138..71347208hg19UCSC Ensembl
Cytoband4q13.3
Allele length
AssemblyAllele length
hg3871
hg1971
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3684118
Supporting Variants
Samples
Known GenesMUC7
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)essv16468783
Frequency
Sample Size20
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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