A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3303869



Internal ID15150817
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:21482028..21482029hg38UCSC Ensembl
Innerchr12:21481995..21482062hg38UCSC Ensembl
Outerchr12:21481994..21482063hg38UCSC Ensembl
chr12:21634962..21634963hg19UCSC Ensembl
Innerchr12:21634929..21634996hg19UCSC Ensembl
Outerchr12:21634928..21634997hg19UCSC Ensembl
chr12:21526229..21526230hg18UCSC Ensembl
Innerchr12:21526263..21526196hg18UCSC Ensembl
Outerchr12:21526195..21526264hg18UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg38265
hg19265
hg18265
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7752494, essv7742834, essv7761893, essv7753082, essv7747481, essv7757054
SamplesNA12155, NA11992, NA12044, NA11993, NA12003, NA07037
Known GenesRECQL
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3303869
Frequency
Sample Size185
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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