A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25787183



Internal ID19171473
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:226801457..226820801hg38UCSC Ensembl
Innerchr1:226989158..227008502hg19UCSC Ensembl
Innerchr1:225055781..225075125hg18UCSC Ensembl
Cytoband1q42.12
Allele length
AssemblyAllele length
hg3819345
hg1919345
hg1819345
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3891159
Supporting Variants
Samples
Known Genes
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=5
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25787183
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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