A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7762984



Internal ID13425336
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:247589290..247589291hg38UCSC Ensembl
Innerchr1:247589225..247589356hg38UCSC Ensembl
Outerchr1:247589224..247589357hg38UCSC Ensembl
chr1:247752592..247752593hg19UCSC Ensembl
Innerchr1:247752527..247752658hg19UCSC Ensembl
Outerchr1:247752526..247752659hg19UCSC Ensembl
chr1:245819215..245819216hg18UCSC Ensembl
Innerchr1:245819281..245819150hg18UCSC Ensembl
Outerchr1:245819149..245819282hg18UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg38223
hg19223
hg18223
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3306120
Supporting Variants
SamplesNA12249
Known GenesOR2G2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7762984
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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