A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16477305



Internal ID19340865
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:4714655..4714807hg38UCSC Ensembl
chr17:4617950..4618102hg19UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg38153
hg19153
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3653447
Supporting Variants
Samples
Known GenesARRB2
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)essv16477305
Frequency
Sample Size20
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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