A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3635629



Internal ID7022428
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:104942355..104955280hg38UCSC Ensembl
chr14:105408692..105421617hg19UCSC Ensembl
Cytoband14q32.33
Allele length
AssemblyAllele length
hg3812926
hg1912926
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15114747, essv15114753, essv15114750, essv15114752, essv15114751, essv15114748, essv15114749
SamplesHG01443, NA19113, NA19740, NA19093, NA19096, HG03470, HG03303
Known GenesAHNAK2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3635629
Frequency
Sample Size2504
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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