A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16477749



Internal ID19341309
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:173736015..173736461hg38UCSC Ensembl
chr5:173163018..173163464hg19UCSC Ensembl
Cytoband5q35.2
Allele length
AssemblyAllele length
hg38447
hg19447
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3653939
Supporting Variants
Samples
Known GenesLOC101928136
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)essv16477749
Frequency
Sample Size20
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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