A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3449729



Internal ID14949991
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:42083630..42084561hg38UCSC Ensembl
Innerchr12:42083680..42084511hg38UCSC Ensembl
Outerchr12:42083580..42084611hg38UCSC Ensembl
chr12:42477432..42478363hg19UCSC Ensembl
Innerchr12:42477482..42478313hg19UCSC Ensembl
Outerchr12:42477382..42478413hg19UCSC Ensembl
chr12:40763699..40764630hg18UCSC Ensembl
Innerchr12:40763749..40764580hg18UCSC Ensembl
Outerchr12:40763649..40764680hg18UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg38932
hg19932
hg18932
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8740756
SamplesNA19240
Known GenesGXYLT1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3449729
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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