A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15402365



Internal ID4851866
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:20439838..20440656hg38UCSC Ensembl
Innerchr16:20439838..20440656hg38UCSC Ensembl
Outerchr16:20439469..20441049hg38UCSC Ensembl
chr16:20451160..20451978hg19UCSC Ensembl
Innerchr16:20451160..20451978hg19UCSC Ensembl
Outerchr16:20450791..20452371hg19UCSC Ensembl
Cytoband16p12.3
Allele length
AssemblyAllele length
hg38819
hg19819
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3638140
Supporting Variants
SamplesNA12272
Known GenesACSM5
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15402365
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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