A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3682422



Internal ID19053744
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:41293509..41293578hg38UCSC Ensembl
chr15:41585707..41585776hg19UCSC Ensembl
Cytoband15q15.1
Allele length
AssemblyAllele length
hg3870
hg1970
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16503383
Samples
Known GenesOIP5-AS1
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)esv3682422
Frequency
Sample Size20
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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