A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2661618



Internal ID9927723
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:112434313..112437456hg38UCSC Ensembl
chr12:112872117..112875260hg19UCSC Ensembl
Cytoband12q24.13
Allele length
AssemblyAllele length
hg383144
hg193144
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6260437
SamplesHG00422
Known GenesPTPN11
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2661618
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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