A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15424556



Internal ID5426372
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:22840612..22845152hg38UCSC Ensembl
Innerchr16:22840662..22845102hg38UCSC Ensembl
Outerchr16:22840560..22845204hg38UCSC Ensembl
chr16:22851933..22856473hg19UCSC Ensembl
Innerchr16:22851983..22856423hg19UCSC Ensembl
Outerchr16:22851881..22856525hg19UCSC Ensembl
Cytoband16p12.2
Allele length
AssemblyAllele length
hg384541
hg194541
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3638224
Supporting Variants
SamplesNA19472
Known GenesHS3ST2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15424556
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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