A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3391862



Internal ID15238827
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:203529237..203529570hg38UCSC Ensembl
Innerchr1:203529237..203529570hg38UCSC Ensembl
Outerchr1:203528694..203529860hg38UCSC Ensembl
chr1:203498365..203498698hg19UCSC Ensembl
Innerchr1:203498365..203498698hg19UCSC Ensembl
Outerchr1:203497822..203498988hg19UCSC Ensembl
chr1:201764988..201765321hg18UCSC Ensembl
Innerchr1:201764988..201765321hg18UCSC Ensembl
Outerchr1:201764445..201765611hg18UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg38334
hg19334
hg18334
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8652060
SamplesNA19240
Known Genes
MethodSequencing
Analysis
PlatformSOLiD
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3391862
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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