A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16483773



Internal ID19000647
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:32082506..32082506hg38UCSC Ensembl
chr20:30670309..30670309hg19UCSC Ensembl
Cytoband20q11.21
Allele length
AssemblyAllele length
hg3852
hg1952
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3660633
Supporting Variants
Samples
Known GenesHCK
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)essv16483773
Frequency
Sample Size20
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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