A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16495935



Internal ID19359495
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:31655076..31655088hg38UCSC Ensembl
chr22:32051062..32051074hg19UCSC Ensembl
Cytoband22q12.2
Allele length
AssemblyAllele length
hg3813
hg1913
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3674146
Supporting Variants
Samples
Known Genes
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)essv16495935
Frequency
Sample Size20
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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