A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14046184



Internal ID5886168
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:19470555..19473773hg38UCSC Ensembl
Innerchr11:19470555..19473773hg38UCSC Ensembl
Outerchr11:19470339..19473931hg38UCSC Ensembl
chr11:19492102..19495320hg19UCSC Ensembl
Innerchr11:19492102..19495320hg19UCSC Ensembl
Outerchr11:19491886..19495478hg19UCSC Ensembl
Cytoband11p15.1
Allele length
AssemblyAllele length
hg383219
hg193219
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3625536
Supporting Variants
SamplesNA19310
Known GenesNAV2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14046184
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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