A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3638567



Internal ID7025352
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:47750544..47752111hg38UCSC Ensembl
Innerchr16:47750551..47752105hg38UCSC Ensembl
Outerchr16:47750538..47752118hg38UCSC Ensembl
chr16:47784455..47786022hg19UCSC Ensembl
Innerchr16:47784462..47786016hg19UCSC Ensembl
Outerchr16:47784449..47786029hg19UCSC Ensembl
Cytoband16q12.1
Allele length
AssemblyAllele length
hg381568
hg191568
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15472453, essv15472452, essv15472456, essv15472448, essv15472464, essv15472462, essv15472454, essv15472463, essv15472450, essv15472449, essv15472451, essv15472459, essv15472460, essv15472457, essv15472455, essv15472461, essv15472458
SamplesHG04096, HG03963, HG04001, NA20911, HG03594, HG04238, NA20845, HG04195, HG02731, HG03805, HG03829, HG04054, HG03631, HG04063, HG03790, HG03867, HG03985
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3638567
Frequency
Sample Size2504
Observed Gain0
Observed Loss17
Observed Complex0
Frequencyn/a


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