A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15069851



Internal ID5071667
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:77644082..77697186hg38UCSC Ensembl
chr14:78110425..78163529hg19UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg3853105
hg1953105
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3635012
Supporting Variants
SamplesHG02562
Known GenesALKBH1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15069851
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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