A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3302832



Internal ID15149780
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:40915749..40916002hg38UCSC Ensembl
Innerchr7:40915849..40915902hg38UCSC Ensembl
Outerchr7:40915649..40916102hg38UCSC Ensembl
chr7:40955348..40955601hg19UCSC Ensembl
Innerchr7:40955448..40955501hg19UCSC Ensembl
Outerchr7:40955248..40955701hg19UCSC Ensembl
chr7:40921873..40922126hg18UCSC Ensembl
Innerchr7:40921973..40922026hg18UCSC Ensembl
Outerchr7:40921773..40922226hg18UCSC Ensembl
Cytoband7p14.1
Allele length
AssemblyAllele length
hg38254
hg19254
hg18254
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3776e59
Supporting Variantsessv7734761, essv7736386, essv7737863, essv7732002, essv7733527, essv7733426, essv7737963, essv7736831, essv7732929, essv7731807, essv7736499, essv7737227, essv7737529, essv7738003, essv7733585, essv7735863, essv7732310, essv7736364, essv7735620, essv7735320, essv7733561, essv7734341, essv7735970, essv7734243, essv7733948, essv7738798, essv7733061, essv7738740, essv7732344, essv7736261
SamplesNA18502, NA12717, NA18545, NA18504, NA19190, NA18870, NA12750, NA07346, NA18563, NA18940, NA19138, NA12761, NA19238, NA19172, NA10847, NA18951, NA18605, NA12003, NA18516, NA18907, NA18537, NA11894, NA18912, NA19257, NA18909, NA07051, NA18501, NA18511, NA07000, NA18522
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3302832
Frequency
Sample Size185
Observed Gain30
Observed Loss0
Observed Complex0
Frequencyn/a


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