A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15514812



Internal ID1471601
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:71831043..71836089hg38UCSC Ensembl
Innerchr16:71831543..71835589hg38UCSC Ensembl
Outerchr16:71830043..71837089hg38UCSC Ensembl
chr16:71864946..71869992hg19UCSC Ensembl
Innerchr16:71865446..71869492hg19UCSC Ensembl
Outerchr16:71863946..71870992hg19UCSC Ensembl
Cytoband16q22.2
Allele length
AssemblyAllele length
hg385047
hg195047
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3638980
Supporting Variants
SamplesHG01357
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15514812
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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