A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3652208



Internal ID19370216
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:126517060..126517060hg38UCSC Ensembl
chr10:128205629..128205629hg19UCSC Ensembl
Cytoband10q26.2
Allele length
AssemblyAllele length
hg38142
hg19142
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16476191
Samples
Known GenesC10orf90
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)esv3652208
Frequency
Sample Size20
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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