A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16476863



Internal ID18993737
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:212695490..212695490hg38UCSC Ensembl
chr1:212868832..212868832hg19UCSC Ensembl
Cytoband1q32.3
Allele length
AssemblyAllele length
hg3866
hg1966
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3652955
Supporting Variants
Samples
Known GenesBATF3
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)essv16476863
Frequency
Sample Size20
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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