A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13678926



Internal ID3678432
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:3137807..3185609hg38UCSC Ensembl
chr10:3179999..3227801hg19UCSC Ensembl
Cytoband10p15.2
Allele length
AssemblyAllele length
hg3847803
hg1947803
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3622167
Supporting Variants
SamplesHG00533
Known GenesPITRM1, PITRM1-AS1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13678926
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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