A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3302766



Internal ID15149714
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:38118096..38118254hg38UCSC Ensembl
Innerchr1:38118175..38118175hg38UCSC Ensembl
Outerchr1:38117996..38118354hg38UCSC Ensembl
chr1:38583768..38583926hg19UCSC Ensembl
Innerchr1:38583847..38583847hg19UCSC Ensembl
Outerchr1:38583668..38584026hg19UCSC Ensembl
chr1:38356355..38356513hg18UCSC Ensembl
Innerchr1:38356434..38356434hg18UCSC Ensembl
Outerchr1:38356255..38356613hg18UCSC Ensembl
Cytoband1p34.3
Allele length
AssemblyAllele length
hg38159
hg19159
hg18159
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7732953, essv7736661, essv7735590
SamplesNA18563, NA18582, NA18577
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3302766
Frequency
Sample Size185
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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