A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3638592



Internal ID6678689
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:49296667..49300549hg38UCSC Ensembl
Innerchr16:49296667..49300549hg38UCSC Ensembl
Outerchr16:49296366..49300839hg38UCSC Ensembl
chr16:49330578..49334460hg19UCSC Ensembl
Innerchr16:49330578..49334460hg19UCSC Ensembl
Outerchr16:49330277..49334750hg19UCSC Ensembl
Cytoband16q12.1
Allele length
AssemblyAllele length
hg383883
hg193883
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15474734, essv15474743, essv15474737, essv15474728, essv15474739, essv15474745, essv15474742, essv15474731, essv15474732, essv15474738, essv15474729, essv15474744, essv15474735, essv15474730, essv15474740, essv15474733, essv15474741, essv15474736
SamplesHG02386, HG02029, HG01944, HG01873, HG02069, HG01599, HG01849, HG02138, HG00443, HG01797, HG01595, HG00619, HG00692, HG02048, HG02127, HG00625, HG01598, HG02353
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3638592
Frequency
Sample Size2504
Observed Gain0
Observed Loss18
Observed Complex0
Frequencyn/a


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