A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13700540



Internal ID3702363
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:13842258..13858724hg38UCSC Ensembl
chr10:13884258..13900724hg19UCSC Ensembl
Cytoband10p13
Allele length
AssemblyAllele length
hg3816467
hg1916467
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3622412
Supporting Variants
SamplesHG03990
Known GenesFRMD4A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13700540
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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