A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15103499



Internal ID5105315
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:96224959..96319922hg38UCSC Ensembl
chr14:96691296..96786259hg19UCSC Ensembl
Cytoband14q32.2
Allele length
AssemblyAllele length
hg3894964
hg1994964
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3635420
Supporting Variants
SamplesNA06984
Known GenesATG2B, BDKRB1, BDKRB2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15103499
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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