A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14259593



Internal ID1371944
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:103981074..103985752hg38UCSC Ensembl
chr11:103851802..103856480hg19UCSC Ensembl
Cytoband11q22.3
Allele length
AssemblyAllele length
hg384679
hg194679
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3627567
Supporting Variants
SamplesHG01242
Known GenesPDGFD
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14259593
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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