A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25796017



Internal ID18825136
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:173626..181168hg38UCSC Ensembl
Innerchr16:223625..231167hg19UCSC Ensembl
Innerchr16:163625..171167hg18UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg387543
hg197543
hg187543
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3892753
Supporting Variants
Samples
Known GenesHBA1, HBA2, HBQ1
MethodSNP array
Analysis
PlatformIllumina Human OmniExpress
CommentsNumber of probes=8
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25796017
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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