A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2673626



Internal ID9593045
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:132265985..132266183hg38UCSC Ensembl
chr12:132842571..132842769hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg38199
hg19199
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6085543, essv6179998, essv5526029
SamplesHG01173, HG01082, NA19394
Known GenesGALNT9
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2673626
Frequency
Sample Size1151
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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