A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14118439



Internal ID5540800
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:45457495..45462775hg38UCSC Ensembl
Innerchr11:45457519..45462751hg38UCSC Ensembl
Outerchr11:45457471..45462799hg38UCSC Ensembl
chr11:45479045..45484325hg19UCSC Ensembl
Innerchr11:45479069..45484301hg19UCSC Ensembl
Outerchr11:45479021..45484349hg19UCSC Ensembl
Cytoband11p11.2
Allele length
AssemblyAllele length
hg385281
hg195281
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3626175
Supporting Variants
SamplesNA19001
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14118439
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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