A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3660508



Internal ID19031830
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:49434294..49434435hg38UCSC Ensembl
chr19:49937551..49937692hg19UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg38142
hg19142
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16465337
Samples
Known GenesSLC17A7
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)esv3660508
Frequency
Sample Size20
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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