A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16068718



Internal ID6070534
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:46136916..46255762hg38UCSC Ensembl
chr19:46640173..46759019hg19UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg38118847
hg19118847
Variant TypeCNV gain
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3644522
Supporting Variants
SamplesHG00478
Known GenesDKFZp434J0226, IGFL1, IGFL2, RNU6-66P
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16068718
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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