A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16496373



Internal ID19359933
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:218639762..218640058hg38UCSC Ensembl
chr2:219504485..219504781hg19UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg38297
hg19297
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3674633
Supporting Variants
Samples
Known GenesZNF142
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)essv16496373
Frequency
Sample Size20
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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