A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3450282



Internal ID15297230
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:107462145..107463743hg38UCSC Ensembl
Innerchr12:107462743..107463145hg38UCSC Ensembl
Outerchr12:107461145..107464743hg38UCSC Ensembl
chr12:107855922..107857520hg19UCSC Ensembl
Innerchr12:107856520..107856922hg19UCSC Ensembl
Outerchr12:107854922..107858520hg19UCSC Ensembl
chr12:106380052..106381650hg18UCSC Ensembl
Innerchr12:106381052..106380650hg18UCSC Ensembl
Outerchr12:106379052..106382650hg18UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg381599
hg191599
hg181599
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv910e59
Supporting Variantsessv8688540
SamplesNA19240
Known GenesBTBD11
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3450282
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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