A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16463779



Internal ID19327339
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:57188205..57188338hg38UCSC Ensembl
chr16:57222117..57222250hg19UCSC Ensembl
Cytoband16q13
Allele length
AssemblyAllele length
hg38134
hg19134
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3683337
Supporting Variants
Samples
Known GenesRSPRY1
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)essv16463779
Frequency
Sample Size20
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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