A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16486333



Internal ID19349893
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:148683278..148683278hg38UCSC Ensembl
chr2:149440847..149440847hg19UCSC Ensembl
Cytoband2q23.1
Allele length
AssemblyAllele length
hg3879
hg1979
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3663478
Supporting Variants
Samples
Known GenesEPC2
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)essv16486333
Frequency
Sample Size20
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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