A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15051766



Internal ID5053582
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:69388471..69421903hg38UCSC Ensembl
chr14:69855188..69888620hg19UCSC Ensembl
Cytoband14q24.1
Allele length
AssemblyAllele length
hg3833433
hg1933433
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3634836
Supporting Variants
SamplesHG03848
Known GenesERH, SLC39A9
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15051766
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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