A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15103486



Internal ID5105302
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:96209831..96229962hg38UCSC Ensembl
Innerchr14:96209981..96229812hg38UCSC Ensembl
Outerchr14:96209681..96230112hg38UCSC Ensembl
chr14:96676168..96696299hg19UCSC Ensembl
Innerchr14:96676318..96696149hg19UCSC Ensembl
Outerchr14:96676018..96696449hg19UCSC Ensembl
Cytoband14q32.2
Allele length
AssemblyAllele length
hg3820132
hg1920132
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3635418
Supporting Variants
SamplesNA12341
Known GenesBDKRB2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15103486
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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