A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3341944



Internal ID14842212
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:21482025..21482049hg38UCSC Ensembl
Innerchr12:21482028..21482043hg38UCSC Ensembl
Outerchr12:21482004..21482070hg38UCSC Ensembl
chr12:21634959..21634983hg19UCSC Ensembl
Innerchr12:21634962..21634977hg19UCSC Ensembl
Outerchr12:21634938..21635004hg19UCSC Ensembl
chr12:21526226..21526250hg18UCSC Ensembl
Innerchr12:21526244..21526229hg18UCSC Ensembl
Outerchr12:21526205..21526271hg18UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg38250
hg19250
hg18250
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8956238, essv8956235, essv8956232, essv8956236, essv8956234, essv8956233
SamplesNA12155, NA11992, NA12044, NA11993, NA12003, NA07037
Known GenesRECQL
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3341944
Frequency
Sample Size185
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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