A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3430910



Internal ID14931180
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:70626250..70626269hg38UCSC Ensembl
Innerchr12:70626246..70626273hg38UCSC Ensembl
Outerchr12:70626227..70626292hg38UCSC Ensembl
chr12:71020030..71020049hg19UCSC Ensembl
Innerchr12:71020026..71020053hg19UCSC Ensembl
Outerchr12:71020007..71020072hg19UCSC Ensembl
chr12:69306297..69306316hg18UCSC Ensembl
Innerchr12:69306320..69306293hg18UCSC Ensembl
Outerchr12:69306274..69306339hg18UCSC Ensembl
Cytoband12q15
Allele length
AssemblyAllele length
hg386000
hg196000
hg186000
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9658247
SamplesNA18970
Known GenesPTPRB
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3430910
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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