A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13998757



Internal ID4276258
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:4487754..4541162hg38UCSC Ensembl
Innerchr11:4487755..4541161hg38UCSC Ensembl
Outerchr11:4487753..4541163hg38UCSC Ensembl
chr11:4508984..4562392hg19UCSC Ensembl
Innerchr11:4508985..4562391hg19UCSC Ensembl
Outerchr11:4508983..4562393hg19UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg3853409
hg1953409
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3625186
Supporting Variants
SamplesHG03844
Known GenesOR52K1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13998757
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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