A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3638582



Internal ID7025367
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:48759523..48763451hg38UCSC Ensembl
Innerchr16:48759540..48763435hg38UCSC Ensembl
Outerchr16:48759507..48763468hg38UCSC Ensembl
chr16:48793434..48797362hg19UCSC Ensembl
Innerchr16:48793451..48797346hg19UCSC Ensembl
Outerchr16:48793418..48797379hg19UCSC Ensembl
Cytoband16q12.1
Allele length
AssemblyAllele length
hg383929
hg193929
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15474433
SamplesNA19041
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3638582
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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