A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16472638



Internal ID19336198
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:110677347..110677747hg38UCSC Ensembl
chr13:111329694..111330094hg19UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg38401
hg19401
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3688401
Supporting Variants
Samples
Known GenesCARS2
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)essv16472638
Frequency
Sample Size20
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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