A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3627305



Internal ID7014135
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:94047391..94052387hg38UCSC Ensembl
Innerchr11:94047423..94052355hg38UCSC Ensembl
Outerchr11:94047359..94052419hg38UCSC Ensembl
chr11:93780557..93785553hg19UCSC Ensembl
Innerchr11:93780589..93785521hg19UCSC Ensembl
Outerchr11:93780525..93785585hg19UCSC Ensembl
Cytoband11q21
Allele length
AssemblyAllele length
hg384997
hg194997
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14241697, essv14241698
SamplesHG02870, HG02283
Known GenesHEPHL1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3627305
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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