A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2661164



Internal ID9580583
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:93749506..93750330hg38UCSC Ensembl
chr12:94143282..94144106hg19UCSC Ensembl
Cytoband12q22
Allele length
AssemblyAllele length
hg38825
hg19825
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6215630, essv5608684, essv5656552, essv5610899
SamplesHG00185, NA19755, HG00183, HG00312
Known GenesCRADD
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2661164
Frequency
Sample Size1151
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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