A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16499467



Internal ID19016341
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:83363896..83363949hg38UCSC Ensembl
chr7:82993212..82993265hg19UCSC Ensembl
Cytoband7q21.11
Allele length
AssemblyAllele length
hg3854
hg1954
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3678070
Supporting Variants
Samples
Known GenesSEMA3E
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)essv16499467
Frequency
Sample Size20
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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