A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3381540



Internal ID14881816
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:112800982..112800989hg38UCSC Ensembl
Innerchr12:112800984..112800987hg38UCSC Ensembl
Outerchr12:112800980..112800991hg38UCSC Ensembl
chr12:113238787..113238794hg19UCSC Ensembl
Innerchr12:113238789..113238792hg19UCSC Ensembl
Outerchr12:113238785..113238796hg19UCSC Ensembl
chr12:111723170..111723177hg18UCSC Ensembl
Innerchr12:111723172..111723175hg18UCSC Ensembl
Outerchr12:111723168..111723179hg18UCSC Ensembl
Cytoband12q24.13
Allele length
AssemblyAllele length
hg3851
hg1951
hg1851
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7865628
SamplesNA12005
Known GenesRPH3A
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3381540
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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