A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3637687



Internal ID7024477
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15363647, essv15363654, essv15363641, essv15363656, essv15363645, essv15363650, essv15363646, essv15363652, essv15363651, essv15363655, essv15363643, essv15363657, essv15363653, essv15363648, essv15363644, essv15363649, essv15363642
SamplesHG00361, NA21100, HG01167, NA19917, HG00290, HG00282, NA19707, HG00239, HG01047, HG00321, NA12144, NA21144, HG04239, HG00375, HG01623, HG01395, HG01912
Known GenesADCY9
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3637687
Frequency
Sample Size2504
Observed Gain0
Observed Loss17
Observed Complex0
Frequencyn/a


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