A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25785892



Internal ID18830474
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:227818357..227834202hg38UCSC Ensembl
Innerchr1:228006058..228021903hg19UCSC Ensembl
Innerchr1:226072681..226088526hg18UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg3815846
hg1915846
hg1815846
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3891170
Supporting Variants
Samples
Known GenesPRSS38
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=7
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25785892
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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