A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3635327



Internal ID6675440
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:91717848..91867474hg38UCSC Ensembl
chr14:92184192..92333818hg19UCSC Ensembl
Cytoband14q32.12
Allele length
AssemblyAllele length
hg38149627
hg19149627
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15097029
SamplesNA06984
Known GenesCATSPERB, TC2N
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3635327
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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