A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15040780



Internal ID1680695
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:64548203..64554513hg38UCSC Ensembl
chr14:65014921..65021231hg19UCSC Ensembl
Cytoband14q23.3
Allele length
AssemblyAllele length
hg386311
hg196311
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3634754
Supporting Variants
SamplesHG01550
Known GenesPPP1R36
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15040780
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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