A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3638378



Internal ID6678476
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:29973809..30006402hg38UCSC Ensembl
Innerchr16:29973809..30006402hg38UCSC Ensembl
Outerchr16:29973309..30006902hg38UCSC Ensembl
chr16:29985130..30017723hg19UCSC Ensembl
Innerchr16:29985130..30017723hg19UCSC Ensembl
Outerchr16:29984630..30018223hg19UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg3832594
hg1932594
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15441739
SamplesHG02325
Known GenesDOC2A, HIRIP3, INO80E, TAOK2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3638378
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer