A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16503144



Internal ID19020018
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:19078083..19078176hg38UCSC Ensembl
chr9:19078081..19078174hg19UCSC Ensembl
Cytoband9p22.1
Allele length
AssemblyAllele length
hg3894
hg1994
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3682155
Supporting Variants
Samples
Known GenesHAUS6
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)essv16503144
Frequency
Sample Size20
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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