A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2664134



Internal ID9583553
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:99424417..99425904hg38UCSC Ensembl
chr12:99818195..99819682hg19UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg381488
hg191488
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv307e199
Supporting Variantsessv6369499, essv5844234
SamplesHG00262, HG00111
Known GenesANKS1B
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2664134
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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