A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25800538



Internal ID19169062
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:42336160..42387249hg38UCSC Ensembl
Innerchr20:40964800..41015889hg19UCSC Ensembl
Innerchr20:40398214..40449303hg18UCSC Ensembl
Cytoband20q12
Allele length
AssemblyAllele length
hg3851090
hg1951090
hg1851090
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3893338
Supporting Variants
Samples
Known GenesPTPRT
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=49
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25800538
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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