A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8903549



Internal ID14998215
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:233383391..233383402hg38UCSC Ensembl
Innerchr1:233383381..233383409hg38UCSC Ensembl
Outerchr1:233383370..233383420hg38UCSC Ensembl
chr1:233519137..233519148hg19UCSC Ensembl
Innerchr1:233519127..233519155hg19UCSC Ensembl
Outerchr1:233519116..233519166hg19UCSC Ensembl
chr1:231585760..231585771hg18UCSC Ensembl
Innerchr1:231585778..231585750hg18UCSC Ensembl
Outerchr1:231585739..231585789hg18UCSC Ensembl
Cytoband1q42.2
Allele length
AssemblyAllele length
hg38289
hg19289
hg18289
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3325872
Supporting Variants
SamplesNA19225
Known GenesKIAA1804
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8903549
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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