A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3670750



Internal ID19388758
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrY:26652805..26652805hg38UCSC Ensembl
chrY:28798952..28798952hg19UCSC Ensembl
CytobandYq11.23
Allele length
AssemblyAllele length
hg38404
hg19404
Variant TypeCNV novel sequence insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16492880
Samples
Known Genes
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)esv3670750
Frequency
Sample Size20
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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