A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16475642



Internal ID19339202
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:45579431..45579431hg38UCSC Ensembl
chr10:46074879..46074879hg19UCSC Ensembl
Cytoband10q11.21
Allele length
AssemblyAllele length
hg38234
hg19234
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3651599
Supporting Variants
Samples
Known GenesMARCH8
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)essv16475642
Frequency
Sample Size20
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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