A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16478971



Internal ID19342531
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:179070866..179070987hg38UCSC Ensembl
chr5:178497867..178497988hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg38122
hg19122
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3655297
Supporting Variants
Samples
Known GenesZNF354C
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)essv16478971
Frequency
Sample Size20
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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