A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16465326



Internal ID18982200
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:48646091..48646208hg38UCSC Ensembl
chr19:49149348..49149465hg19UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg38118
hg19118
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3660386
Supporting Variants
Samples
Known GenesCA11, SEC1P
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)essv16465326
Frequency
Sample Size20
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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