A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16496457



Internal ID19360017
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:49746432..49746433hg38UCSC Ensembl
chr3:49783865..49783866hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg382
hg192
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3674726
Supporting Variants
Samples
Known GenesIP6K1
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)essv16496457
Frequency
Sample Size20
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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