A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3378536



Internal ID14878806
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:216851515..216851534hg38UCSC Ensembl
Innerchr1:216851511..216851538hg38UCSC Ensembl
Outerchr1:216851492..216851557hg38UCSC Ensembl
chr1:217024857..217024876hg19UCSC Ensembl
Innerchr1:217024853..217024880hg19UCSC Ensembl
Outerchr1:217024834..217024899hg19UCSC Ensembl
chr1:215091480..215091499hg18UCSC Ensembl
Innerchr1:215091503..215091476hg18UCSC Ensembl
Outerchr1:215091457..215091522hg18UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg38300
hg19300
hg18300
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9598102
SamplesNA12814
Known GenesESRRG
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3378536
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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