A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3644836



Internal ID6684899
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:55084362..55113486hg38UCSC Ensembl
chr19:55595730..55624854hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg3829125
hg1929125
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16100466
SamplesNA18620
Known GenesEPS8L1, PPP1R12C
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3644836
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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