A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3590101



Internal ID6630388
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:25860228..25863238hg38UCSC Ensembl
Innerchr2:25860255..25863211hg38UCSC Ensembl
Outerchr2:25860201..25863265hg38UCSC Ensembl
chr2:26083097..26086107hg19UCSC Ensembl
Innerchr2:26083124..26086080hg19UCSC Ensembl
Outerchr2:26083070..26086134hg19UCSC Ensembl
Cytoband2p23.3
Allele length
AssemblyAllele length
hg383011
hg193011
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10433196, essv10433195, essv10433194
SamplesNA19917, NA20291, HG02642
Known GenesASXL2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3590101
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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