A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15441375



Internal ID5673850
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:29224250..29226220hg38UCSC Ensembl
Innerchr16:29224267..29226203hg38UCSC Ensembl
Outerchr16:29224233..29226237hg38UCSC Ensembl
chr16:29235571..29237541hg19UCSC Ensembl
Innerchr16:29235588..29237524hg19UCSC Ensembl
Outerchr16:29235554..29237558hg19UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg381971
hg191971
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3638357
Supporting Variants
SamplesNA19078
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15441375
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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