A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16491001



Internal ID19007875
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:124809372..124809372hg38UCSC Ensembl
chr10:126497941..126497941hg19UCSC Ensembl
Cytoband10q26.13
Allele length
AssemblyAllele length
hg3865
hg1965
Variant TypeCNV novel sequence insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3668664
Supporting Variants
Samples
Known GenesFAM175B
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)essv16491001
Frequency
Sample Size20
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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