A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3592992



Internal ID6633275
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:154447556..154553185hg38UCSC Ensembl
chr2:155304068..155409697hg19UCSC Ensembl
Cytoband2q24.1
Allele length
AssemblyAllele length
hg38105630
hg19105630
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10719667
SamplesNA19355
Known GenesGALNT13, LOC100144595
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3592992
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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