A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3638764



Internal ID7025549
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:60670519..60670992hg38UCSC Ensembl
Innerchr16:60670519..60670992hg38UCSC Ensembl
Outerchr16:60670246..60671297hg38UCSC Ensembl
chr16:60704423..60704896hg19UCSC Ensembl
Innerchr16:60704423..60704896hg19UCSC Ensembl
Outerchr16:60704150..60705201hg19UCSC Ensembl
Cytoband16q21
Allele length
AssemblyAllele length
hg38474
hg19474
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15495258, essv15495261, essv15495263, essv15495264, essv15495260, essv15495259, essv15495262
SamplesNA18528, HG02040, HG01816, HG02374, HG00422, HG00530, HG02047
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3638764
Frequency
Sample Size2504
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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