A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3596407



Internal ID6983722
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:64606784..64649913hg38UCSC Ensembl
chr3:64592460..64635589hg19UCSC Ensembl
Cytoband3p14.1
Allele length
AssemblyAllele length
hg3843130
hg1943130
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11029277
SamplesHG04141
Known GenesADAMTS9
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3596407
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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