A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2663586



Internal ID9583005
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:99592018..99640639hg38UCSC Ensembl
Outerchr12:99591981..99640689hg38UCSC Ensembl
Innerchr12:99985796..100034417hg19UCSC Ensembl
Outerchr12:99985759..100034467hg19UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg3848709
hg1948709
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6584119
SamplesNA18546
Known GenesANKS1B
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2663586
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer