A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3627731



Internal ID6667878
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:111293219..111297467hg38UCSC Ensembl
chr11:111163944..111168192hg19UCSC Ensembl
Cytoband11q23.1
Allele length
AssemblyAllele length
hg384249
hg194249
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv233e214
Supporting Variantsessv14286889, essv14286888
SamplesNA12275, HG00335
Known GenesCOLCA1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3627731
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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