A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3302966



Internal ID14803228
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:159237799..159237876hg38UCSC Ensembl
Innerchr2:159237837..159237837hg38UCSC Ensembl
Outerchr2:159237699..159237976hg38UCSC Ensembl
chr2:160094310..160094387hg19UCSC Ensembl
Innerchr2:160094348..160094348hg19UCSC Ensembl
Outerchr2:160094210..160094487hg19UCSC Ensembl
chr2:159802556..159802633hg18UCSC Ensembl
Innerchr2:159802594..159802594hg18UCSC Ensembl
Outerchr2:159802456..159802733hg18UCSC Ensembl
Cytoband2q24.2
Allele length
AssemblyAllele length
hg3878
hg1978
hg1878
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2286e59
Supporting Variantsessv7732524, essv7733037, essv7737691, essv7733405, essv7737277, essv7731975, essv7733898, essv7735013, essv7738060, essv7735161, essv7735373, essv7733666, essv7736130
SamplesNA18502, NA18947, NA18861, NA18870, NA12287, NA19138, NA19238, NA12828, NA12878, NA18523, NA19108, NA18501, NA19093
Known GenesWDSUB1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3302966
Frequency
Sample Size185
Observed Gain13
Observed Loss0
Observed Complex0
Frequencyn/a


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