A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3592080



Internal ID6979407
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:115967048..116661981hg38UCSC Ensembl
chr2:116724624..117419557hg19UCSC Ensembl
Cytoband2q14.1
Allele length
AssemblyAllele length
hg38694934
hg19694934
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv734e214
Supporting Variantsessv10636140
SamplesHG03514
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3592080
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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