A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3630778



Internal ID6670912
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:112434300..112437591hg38UCSC Ensembl
Innerchr12:112434300..112437591hg38UCSC Ensembl
Outerchr12:112434016..112437750hg38UCSC Ensembl
chr12:112872104..112875395hg19UCSC Ensembl
Innerchr12:112872104..112875395hg19UCSC Ensembl
Outerchr12:112871820..112875554hg19UCSC Ensembl
Cytoband12q24.13
Allele length
AssemblyAllele length
hg383292
hg193292
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14605550, essv14605551
SamplesHG00422, NA19072
Known GenesPTPN11
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3630778
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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