A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15385802



Internal ID5387618
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:16008227..16214274hg38UCSC Ensembl
Innerchr16:16008377..16214124hg38UCSC Ensembl
Outerchr16:16008077..16214424hg38UCSC Ensembl
chr16:16102084..16308131hg19UCSC Ensembl
Innerchr16:16102234..16307981hg19UCSC Ensembl
Outerchr16:16101934..16308281hg19UCSC Ensembl
Cytoband16p13.11
Allele length
AssemblyAllele length
hg38206048
hg19206048
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3638050
Supporting Variants
SamplesHG03949
Known GenesABCC1, ABCC6
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15385802
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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