A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3595711



Internal ID6983029
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:29312866..29316700hg38UCSC Ensembl
chr3:29354357..29358191hg19UCSC Ensembl
Cytoband3p24.1
Allele length
AssemblyAllele length
hg383835
hg193835
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10967988, essv10967984, essv10967989, essv10967991, essv10967985, essv10967986, essv10967987, essv10967990
SamplesNA18979, NA19795, NA18639, NA19027, HG02090, HG01345, HG00350, NA19149
Known GenesRBMS3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3595711
Frequency
Sample Size2504
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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