A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5395408



Internal ID8719242
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:7732143..7761058hg38UCSC Ensembl
Innerchr18:7732141..7761056hg19UCSC Ensembl
Innerchr18:7722141..7751056hg18UCSC Ensembl
Cytoband18p11.23
Allele length
AssemblyAllele length
hg3828916
hg1928916
hg1828916
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2656311
Supporting Variants
Samples2379 [57]
Known GenesPTPRM
MethodMerging
AnalysisCalls merged from CNV Partition and PennCV algorithms
PlatformMerging
Comments
ReferenceChia_et_al_2012
Pubmed ID23635498
Accession Number(s)essv5395408
Frequency
Sample Size64
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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