A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6000553



Internal ID8977956
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:48092547..48093662hg38UCSC Ensembl
chr16:48126458..48127573hg19UCSC Ensembl
Cytoband16q12.1
Allele length
AssemblyAllele length
hg381116
hg191116
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2658965
Supporting Variants
SamplesNA19469
Known GenesABCC12
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6000553
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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