A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6052997



Internal ID9304764
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:27726001..27729892hg38UCSC Ensembl
chr12:27878934..27882825hg19UCSC Ensembl
Cytoband12p11.22
Allele length
AssemblyAllele length
hg383892
hg193892
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2674076
Supporting Variants
SamplesNA18487
Known GenesMRPS35
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6052997
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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