A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3638687



Internal ID7025472
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:55764978..55788511hg38UCSC Ensembl
chr16:55798890..55822423hg19UCSC Ensembl
Cytoband16q12.2
Allele length
AssemblyAllele length
hg3823534
hg1923534
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15482309, essv15482305, essv15482307, essv15482308, essv15482304, essv15482306, essv15482310
SamplesHG02583, HG03126, HG03168, HG02620, HG03730, NA18941, HG03815
Known GenesCES1P1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3638687
Frequency
Sample Size2504
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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