A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15363643



Internal ID655768
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:4084228..4091191hg38UCSC Ensembl
Innerchr16:4084272..4091148hg38UCSC Ensembl
Outerchr16:4084185..4091235hg38UCSC Ensembl
chr16:4134229..4141192hg19UCSC Ensembl
Innerchr16:4134273..4141149hg19UCSC Ensembl
Outerchr16:4134186..4141236hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg386964
hg196964
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3637687
Supporting Variants
SamplesHG00290
Known GenesADCY9
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15363643
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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