A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2669816



Internal ID9935921
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:15415549..15420688hg38UCSC Ensembl
chr12:15568483..15573622hg19UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg385140
hg195140
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5612872, essv6125555, essv6481443, essv5537756, essv6557312, essv5942334, essv5718814, essv5797862
SamplesNA19350, NA19238, NA19456, NA19469, NA19470, NA19398, NA19472, NA19711
Known GenesPTPRO
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2669816
Frequency
Sample Size1151
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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