A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16503379



Internal ID19020253
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:40356113..40356180hg38UCSC Ensembl
chr15:40648314..40648381hg19UCSC Ensembl
Cytoband15q15.1
Allele length
AssemblyAllele length
hg3868
hg1968
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3682417
Supporting Variants
Samples
Known GenesPHGR1
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)essv16503379
Frequency
Sample Size20
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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