A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16501327



Internal ID19364887
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:205265982..205266332hg38UCSC Ensembl
chr1:205235110..205235460hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg38351
hg19351
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3680137
Supporting Variants
Samples
Known GenesTMCC2
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)essv16501327
Frequency
Sample Size20
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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