A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10719667



Internal ID721483
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3592992
Supporting Variants
SamplesNA19355
Known GenesGALNT13, LOC100144595
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10719667
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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