A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3638325



Internal ID6678423
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:27434534..27436132hg38UCSC Ensembl
Innerchr16:27434534..27436132hg38UCSC Ensembl
Outerchr16:27434311..27436398hg38UCSC Ensembl
chr16:27445855..27447453hg19UCSC Ensembl
Innerchr16:27445855..27447453hg19UCSC Ensembl
Outerchr16:27445632..27447719hg19UCSC Ensembl
Cytoband16p12.1
Allele length
AssemblyAllele length
hg381599
hg191599
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15439424, essv15439425, essv15439423, essv15439421, essv15439422, essv15439420
SamplesHG03603, HG00674, HG02789, NA18974, NA19072, HG02778
Known GenesIL21R
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3638325
Frequency
Sample Size2504
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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