A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3571917



Internal ID6696613
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:89323531..89323610hg38UCSC Ensembl
chr16:89389939..89390018hg19UCSC Ensembl
chr16:87917440..87917519hg18UCSC Ensembl
Cytoband16q24.3
Allele length
AssemblyAllele length
hg3880
hg1980
hg1880
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv998083
Supporting Variants
SamplesHuRef
Known GenesANKRD11, LOC100287036
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3571917
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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