A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15372778



Internal ID2295183
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:9544556..9549318hg38UCSC Ensembl
Innerchr16:9544617..9549258hg38UCSC Ensembl
Outerchr16:9544496..9549379hg38UCSC Ensembl
chr16:9638413..9643175hg19UCSC Ensembl
Innerchr16:9638474..9643115hg19UCSC Ensembl
Outerchr16:9638353..9643236hg19UCSC Ensembl
Cytoband16p13.2
Allele length
AssemblyAllele length
hg384763
hg194763
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3637873
Supporting Variants
SamplesHG02051
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15372778
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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