A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5753869



Internal ID8731272
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:124339599..124339731hg38UCSC Ensembl
chr12:124824145..124824277hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg38133
hg19133
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2666569
Supporting Variants
SamplesNA19758
Known GenesNCOR2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5753869
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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