A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3597150



Internal ID6984464
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:99496230..99573464hg38UCSC Ensembl
chr3:99215074..99292308hg19UCSC Ensembl
Cytoband3q12.1
Allele length
AssemblyAllele length
hg3877235
hg1977235
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11082705, essv11082706
SamplesHG01389, HG01432
Known GenesMIR548G
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3597150
Frequency
Sample Size2504
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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