A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16472371



Internal ID18989245
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:92462754..92462814hg38UCSC Ensembl
chr13:93115007..93115067hg19UCSC Ensembl
Cytoband13q31.3
Allele length
AssemblyAllele length
hg3861
hg1961
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3688105
Supporting Variants
Samples
Known GenesGPC5
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)essv16472371
Frequency
Sample Size20
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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