A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25779933



Internal ID18830644
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:169289068..169388040hg38UCSC Ensembl
Innerchr1:169258306..169357278hg19UCSC Ensembl
Innerchr1:167524930..167623902hg18UCSC Ensembl
Cytoband1q24.2
Allele length
AssemblyAllele length
hg3898973
hg1998973
hg1898973
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3890760
Supporting Variants
Samples
Known GenesBLZF1, NME7
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=14
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25779933
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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