A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3892753



Internal ID18836887
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:173626..181168hg38UCSC Ensembl
Outerchr16:171058..183273hg38UCSC Ensembl
Innerchr16:223625..231167hg19UCSC Ensembl
Outerchr16:221057..233272hg19UCSC Ensembl
Innerchr16:163625..171167hg18UCSC Ensembl
Outerchr16:161057..173272hg18UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg3812216
hg1912216
hg1812216
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25796017, essv25796319, essv25796154
Samples
Known GenesHBA1, HBA2, HBQ1
MethodSNP array
Analysis
PlatformIllumina Human OmniExpress
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3892753
Frequency
Sample Size3017
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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