A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3598933



Internal ID6639198
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:183880700..183889952hg38UCSC Ensembl
chr3:183598488..183607740hg19UCSC Ensembl
Cytoband3q27.1
Allele length
AssemblyAllele length
hg389253
hg199253
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11253155, essv11253153, essv11253154
SamplesHG03817, HG01596, HG02307
Known GenesPARL
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3598933
Frequency
Sample Size2504
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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