A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15373000



Internal ID5374816
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:10128053..10129685hg38UCSC Ensembl
Innerchr16:10128060..10129679hg38UCSC Ensembl
Outerchr16:10128047..10129692hg38UCSC Ensembl
chr16:10221910..10223542hg19UCSC Ensembl
Innerchr16:10221917..10223536hg19UCSC Ensembl
Outerchr16:10221904..10223549hg19UCSC Ensembl
Cytoband16p13.2
Allele length
AssemblyAllele length
hg381633
hg191633
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3637886
Supporting Variants
SamplesHG04144
Known GenesGRIN2A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15373000
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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