A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15472405



Internal ID5474221
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:47112597..47113669hg38UCSC Ensembl
Innerchr16:47112650..47113617hg38UCSC Ensembl
Outerchr16:47112545..47113722hg38UCSC Ensembl
chr16:47146508..47147580hg19UCSC Ensembl
Innerchr16:47146561..47147528hg19UCSC Ensembl
Outerchr16:47146456..47147633hg19UCSC Ensembl
Cytoband16q12.1
Allele length
AssemblyAllele length
hg381073
hg191073
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3638549
Supporting Variants
SamplesHG03634
Known GenesNETO2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15472405
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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