A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3417889



Internal ID15264847
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:55239703..55240411hg38UCSC Ensembl
Innerchr1:55239703..55240411hg38UCSC Ensembl
Outerchr1:55239613..55240455hg38UCSC Ensembl
chr1:55705376..55706084hg19UCSC Ensembl
Innerchr1:55705376..55706084hg19UCSC Ensembl
Outerchr1:55705286..55706128hg19UCSC Ensembl
chr1:55477964..55478672hg18UCSC Ensembl
Innerchr1:55477964..55478672hg18UCSC Ensembl
Outerchr1:55477874..55478716hg18UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg38709
hg19709
hg18709
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8652091
SamplesNA19240
Known Genes
MethodSequencing
Analysis
PlatformSOLiD
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3417889
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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