A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3594571



Internal ID6634847
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:229217039..229232426hg38UCSC Ensembl
chr2:230081755..230097142hg19UCSC Ensembl
Cytoband2q36.3
Allele length
AssemblyAllele length
hg3815388
hg1915388
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10872641
SamplesHG03160
Known GenesPID1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3594571
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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