A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3594567



Internal ID6981887
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:228954926..228982976hg38UCSC Ensembl
chr2:229819642..229847692hg19UCSC Ensembl
Cytoband2q36.3
Allele length
AssemblyAllele length
hg3828051
hg1928051
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10872625
SamplesHG03160
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3594567
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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