A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3644522



Internal ID6684589
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv665e214
Supporting Variantsessv16068720, essv16068718, essv16068719
SamplesHG01860, HG01187, HG00478
Known GenesDKFZp434J0226, IGFL1, IGFL2, RNU6-66P
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3644522
Frequency
Sample Size2504
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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