A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16501105



Internal ID19364665
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:132630708..132630781hg38UCSC Ensembl
chr10:134444212..134444285hg19UCSC Ensembl
Cytoband10q26.3
Allele length
AssemblyAllele length
hg3874
hg1974
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3679890
Supporting Variants
Samples
Known GenesINPP5A
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)essv16501105
Frequency
Sample Size20
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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