A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3651386



Internal ID19369394
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:179638153..179638925hg38UCSC Ensembl
chr1:179607288..179608060hg19UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg38773
hg19773
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16464516
Samples
Known GenesTDRD5
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)esv3651386
Frequency
Sample Size20
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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