A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15441721



Internal ID2629617
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:29707501..29728215hg38UCSC Ensembl
Innerchr16:29707501..29728215hg38UCSC Ensembl
Outerchr16:29707001..29728715hg38UCSC Ensembl
chr16:29718822..29739536hg19UCSC Ensembl
Innerchr16:29718822..29739536hg19UCSC Ensembl
Outerchr16:29718322..29740036hg19UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg3820715
hg1920715
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3638372
Supporting Variants
SamplesHG02325
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15441721
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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