A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3596209



Internal ID6983526
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:56347063..56368637hg38UCSC Ensembl
chr3:56381091..56402665hg19UCSC Ensembl
Cytoband3p14.3
Allele length
AssemblyAllele length
hg3821575
hg1921575
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11017515
SamplesHG02309
Known GenesERC2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3596209
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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