A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13987618



Internal ID3989484
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:198524..203951hg38UCSC Ensembl
Innerchr11:198524..203951hg38UCSC Ensembl
Outerchr11:198398..203998hg38UCSC Ensembl
chr11:198524..203951hg19UCSC Ensembl
Innerchr11:198524..203951hg19UCSC Ensembl
Outerchr11:198398..203998hg19UCSC Ensembl
Cytoband11p15.5
Allele length
AssemblyAllele length
hg385428
hg195428
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3625062
Supporting Variants
SamplesHG03790
Known GenesBET1L, ODF3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13987618
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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