A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7837992



Internal ID13620006
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:244167871..244167872hg38UCSC Ensembl
Innerchr1:244167846..244167897hg38UCSC Ensembl
Outerchr1:244167845..244167898hg38UCSC Ensembl
chr1:244331173..244331174hg19UCSC Ensembl
Innerchr1:244331148..244331199hg19UCSC Ensembl
Outerchr1:244331147..244331200hg19UCSC Ensembl
chr1:242397796..242397797hg18UCSC Ensembl
Innerchr1:242397822..242397771hg18UCSC Ensembl
Outerchr1:242397770..242397823hg18UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg38289
hg19289
hg18289
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3310133
Supporting Variants
SamplesNA12878
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7837992
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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