A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15203952



Internal ID5205768
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:30818302..31038636hg38UCSC Ensembl
chr15:31110505..31330839hg19UCSC Ensembl
Cytoband15q13.2
Allele length
AssemblyAllele length
hg38220335
hg19220335
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3636036
Supporting Variants
SamplesHG00141
Known GenesFAN1, HERC2P10, MTMR10, TRPM1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15203952
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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