A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3592258



Internal ID6979585
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:123254970..123375451hg38UCSC Ensembl
chr2:124012546..124133027hg19UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg38120482
hg19120482
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10652771
SamplesHG03963
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3592258
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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