A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3638571



Internal ID7025356
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:47971693..47973303hg38UCSC Ensembl
Innerchr16:47971693..47973303hg38UCSC Ensembl
Outerchr16:47971307..47973618hg38UCSC Ensembl
chr16:48005604..48007214hg19UCSC Ensembl
Innerchr16:48005604..48007214hg19UCSC Ensembl
Outerchr16:48005218..48007529hg19UCSC Ensembl
Cytoband16q12.1
Allele length
AssemblyAllele length
hg381611
hg191611
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15472484, essv15472485
SamplesNA20795, HG00253
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3638571
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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