A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3891648



Internal ID18839358
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:25876144..25913383hg38UCSC Ensembl
Outerchr2:25876144..25913383hg38UCSC Ensembl
Innerchr2:26099013..26136252hg19UCSC Ensembl
Outerchr2:26099013..26136252hg19UCSC Ensembl
Innerchr2:25952517..25989756hg18UCSC Ensembl
Outerchr2:25952517..25989756hg18UCSC Ensembl
Cytoband2p23.3
Allele length
AssemblyAllele length
hg3837240
hg1937240
hg1837240
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25786985
Samples
Known GenesASXL2
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3891648
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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