A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15545859



Internal ID5547675
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:84396296..84398175hg38UCSC Ensembl
Innerchr16:84396296..84398175hg38UCSC Ensembl
Outerchr16:84396004..84398562hg38UCSC Ensembl
chr16:84429902..84431781hg19UCSC Ensembl
Innerchr16:84429902..84431781hg19UCSC Ensembl
Outerchr16:84429610..84432168hg19UCSC Ensembl
Cytoband16q24.1
Allele length
AssemblyAllele length
hg381880
hg191880
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3639423
Supporting Variants
SamplesNA19318
Known GenesATP2C2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15545859
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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