A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7762957



Internal ID13078578
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:110005886..110005887hg38UCSC Ensembl
Innerchr1:110005806..110005967hg38UCSC Ensembl
Outerchr1:110005805..110005968hg38UCSC Ensembl
chr1:110548508..110548509hg19UCSC Ensembl
Innerchr1:110548428..110548589hg19UCSC Ensembl
Outerchr1:110548427..110548590hg19UCSC Ensembl
chr1:110350031..110350032hg18UCSC Ensembl
Innerchr1:110350112..110349951hg18UCSC Ensembl
Outerchr1:110349950..110350113hg18UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg38190
hg19190
hg18190
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3305044
Supporting Variants
SamplesNA12249
Known GenesAHCYL1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7762957
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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