A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16056191



Internal ID6058007
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:41749659..41789320hg38UCSC Ensembl
chr19:42253567..42293228hg19UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg3839662
hg1939662
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3644394
Supporting Variants
SamplesHG03025
Known GenesCEACAM6
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16056191
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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