A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5608684



Internal ID8586087
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 Flag1
Merged StatusS
Merged Variantsesv2661164
Supporting Variants
SamplesHG00183
Known GenesCRADD
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5608684
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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