A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2674997



Internal ID9594416
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:27008073..27009464hg38UCSC Ensembl
chr12:27161006..27162397hg19UCSC Ensembl
Cytoband12p11.23
Allele length
AssemblyAllele length
hg381392
hg191392
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5997439, essv6068338, essv6509121, essv5747006, essv6211623, essv5953368, essv6558210, essv5577036
SamplesHG00705, NA18570, HG00592, NA19055, HG00595, NA18571, HG00625, HG00476
Known GenesTM7SF3
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2674997
Frequency
Sample Size1151
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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