A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16494861



Internal ID19011735
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:222741069..222741070hg38UCSC Ensembl
chr1:222914411..222914412hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg382
hg192
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3672953
Supporting Variants
Samples
Known GenesFAM177B
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)essv16494861
Frequency
Sample Size20
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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