A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3635418



Internal ID6675531
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15103486, essv15103485, essv15103487
SamplesNA12341, NA19082, NA06984
Known GenesBDKRB2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3635418
Frequency
Sample Size2504
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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