A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3670001



Internal ID19041323
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:190856348..190856471hg38UCSC Ensembl
chr3:190574137..190574260hg19UCSC Ensembl
Cytoband3q28
Allele length
AssemblyAllele length
hg38124
hg19124
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16492205
Samples
Known GenesGMNC
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)esv3670001
Frequency
Sample Size20
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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