A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14295208



Internal ID658495
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:120709549..120712893hg38UCSC Ensembl
Innerchr11:120709553..120712890hg38UCSC Ensembl
Outerchr11:120709546..120712897hg38UCSC Ensembl
chr11:120580258..120583602hg19UCSC Ensembl
Innerchr11:120580262..120583599hg19UCSC Ensembl
Outerchr11:120580255..120583606hg19UCSC Ensembl
Cytoband11q23.3
Allele length
AssemblyAllele length
hg383345
hg193345
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3627908
Supporting Variants
SamplesHG00306
Known GenesGRIK4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14295208
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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