A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15013994



Internal ID5015810
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:52308649..52336418hg38UCSC Ensembl
chr14:52775367..52803136hg19UCSC Ensembl
Cytoband14q22.1
Allele length
AssemblyAllele length
hg3827770
hg1927770
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3634521
Supporting Variants
SamplesNA18881
Known GenesPTGER2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15013994
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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