A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3302703



Internal ID15149651
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:53753805..53753920hg38UCSC Ensembl
Innerchr12:53753862..53753862hg38UCSC Ensembl
Outerchr12:53753705..53754020hg38UCSC Ensembl
chr12:54147589..54147704hg19UCSC Ensembl
Innerchr12:54147646..54147646hg19UCSC Ensembl
Outerchr12:54147489..54147804hg19UCSC Ensembl
chr12:52433856..52433971hg18UCSC Ensembl
Innerchr12:52433913..52433913hg18UCSC Ensembl
Outerchr12:52433756..52434071hg18UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg38116
hg19116
hg18116
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7736294, essv7733326, essv7732366, essv7736104, essv7735442, essv7738164, essv7734755, essv7738195
SamplesNA18951, NA18956, NA11894, NA18945, NA18608, NA07037, NA19093, NA18511
Known GenesCISTR-ACT
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3302703
Frequency
Sample Size185
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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