A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16496400



Internal ID19359960
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:23969086..23972465hg38UCSC Ensembl
chr1:24295576..24298955hg19UCSC Ensembl
Cytoband1p36.11
Allele length
AssemblyAllele length
hg383380
hg193380
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3674662
Supporting Variants
Samples
Known GenesSRSF10
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)essv16496400
Frequency
Sample Size20
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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