A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3332724



Internal ID15179711
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:242547376..242547820hg38UCSC Ensembl
Innerchr1:242547375..242547821hg38UCSC Ensembl
Outerchr1:242547266..242547940hg38UCSC Ensembl
chr1:242710678..242711122hg19UCSC Ensembl
Innerchr1:242710677..242711123hg19UCSC Ensembl
Outerchr1:242710568..242711242hg19UCSC Ensembl
chr1:240777301..240777745hg18UCSC Ensembl
Innerchr1:240777746..240777300hg18UCSC Ensembl
Outerchr1:240777191..240777865hg18UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg38445
hg19445
hg18445
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8808955
SamplesNA12878
Known Genes
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3332724
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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