A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3638319



Internal ID6678417
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:27201260..27313624hg38UCSC Ensembl
chr16:27212581..27324945hg19UCSC Ensembl
Cytoband16p12.1
Allele length
AssemblyAllele length
hg38112365
hg19112365
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15439281
SamplesNA20790
Known GenesFLJ21408, KDM8, NSMCE1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3638319
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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