A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3682364



Internal ID19053686
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:65574474..65574673hg38UCSC Ensembl
chr5:64870301..64870500hg19UCSC Ensembl
Cytoband5q12.3
Allele length
AssemblyAllele length
hg38200
hg19200
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16467304
Samples
Known GenesPPWD1
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)esv3682364
Frequency
Sample Size20
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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