A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25780174



Internal ID19180002
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:158348527..158487943hg38UCSC Ensembl
Innerchr7:158141219..158280635hg19UCSC Ensembl
Innerchr7:157833980..157973396hg18UCSC Ensembl
Cytoband7q36.3
Allele length
AssemblyAllele length
hg38139417
hg19139417
hg18139417
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3891246
Supporting Variants
Samples
Known GenesPTPRN2
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=53
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25780174
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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