A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3638587



Internal ID7025372
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:48967850..48968252hg38UCSC Ensembl
Innerchr16:48967858..48968244hg38UCSC Ensembl
Outerchr16:48967842..48968260hg38UCSC Ensembl
chr16:49001761..49002163hg19UCSC Ensembl
Innerchr16:49001769..49002155hg19UCSC Ensembl
Outerchr16:49001753..49002171hg19UCSC Ensembl
Cytoband16q12.1
Allele length
AssemblyAllele length
hg38403
hg19403
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15474494, essv15474490, essv15474493, essv15474491, essv15474492
SamplesHG02536, NA18520, HG03457, HG02881, HG03046
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3638587
Frequency
Sample Size2504
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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