A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16484250



Internal ID19347810
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:29901418..29901418hg38UCSC Ensembl
chr21:31273735..31273735hg19UCSC Ensembl
Cytoband21q21.3
Allele length
AssemblyAllele length
hg38102
hg19102
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3661162
Supporting Variants
Samples
Known GenesGRIK1
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)essv16484250
Frequency
Sample Size20
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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