A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3627791



Internal ID6667938
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:114531582..114536102hg38UCSC Ensembl
Innerchr11:114531609..114536075hg38UCSC Ensembl
Outerchr11:114531555..114536129hg38UCSC Ensembl
chr11:114402304..114406824hg19UCSC Ensembl
Innerchr11:114402331..114406797hg19UCSC Ensembl
Outerchr11:114402277..114406851hg19UCSC Ensembl
Cytoband11q23.2
Allele length
AssemblyAllele length
hg384521
hg194521
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14289740
SamplesHG03446
Known GenesNXPE1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3627791
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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