A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3644831



Internal ID7031583
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:55031983..55049076hg38UCSC Ensembl
chr19:55543351..55560444hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg3817094
hg1917094
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16100327, essv16100328
SamplesHG02981, NA18620
Known GenesGP6, RDH13
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3644831
Frequency
Sample Size2504
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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