A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8673989



Internal ID15115535
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:244167871..244167877hg38UCSC Ensembl
Innerchr1:244167863..244167885hg38UCSC Ensembl
Outerchr1:244167857..244167891hg38UCSC Ensembl
chr1:244331173..244331179hg19UCSC Ensembl
Innerchr1:244331165..244331187hg19UCSC Ensembl
Outerchr1:244331159..244331193hg19UCSC Ensembl
chr1:242397796..242397802hg18UCSC Ensembl
Innerchr1:242397810..242397788hg18UCSC Ensembl
Outerchr1:242397782..242397816hg18UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg38289
hg19289
hg18289
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3343689
Supporting Variants
SamplesNA19240
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8673989
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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