A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3592247



Internal ID6979574
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:123023673..123072147hg38UCSC Ensembl
chr2:123781249..123829723hg19UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg3848475
hg1948475
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10652538
SamplesHG03963
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3592247
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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