A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2676807



Internal ID9942912
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:413519..414370hg38UCSC Ensembl
chr12:522685..523536hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg38852
hg19852
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6346566, essv6078515, essv5511243, essv5854001, essv6104636, essv6027795
SamplesNA18861, NA19448, NA19678, NA19904, NA20282, NA20322
Known GenesCCDC77
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2676807
Frequency
Sample Size1151
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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