A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3627910



Internal ID7014735
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:120788250..120794542hg38UCSC Ensembl
Innerchr11:120788256..120794536hg38UCSC Ensembl
Outerchr11:120788244..120794548hg38UCSC Ensembl
chr11:120658959..120665251hg19UCSC Ensembl
Innerchr11:120658965..120665245hg19UCSC Ensembl
Outerchr11:120658953..120665257hg19UCSC Ensembl
Cytoband11q23.3
Allele length
AssemblyAllele length
hg386293
hg196293
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14295215, essv14295214, essv14295213
SamplesNA18511, HG03118, HG03303
Known GenesGRIK4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3627910
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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