A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16463736



Internal ID18980610
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:48246763..48246898hg38UCSC Ensembl
chr16:48280674..48280809hg19UCSC Ensembl
Cytoband16q12.1
Allele length
AssemblyAllele length
hg38136
hg19136
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3682860
Supporting Variants
Samples
Known GenesLONP2, MIR548AE2
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)essv16463736
Frequency
Sample Size20
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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