A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8903061



Internal ID14678631
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:221795812..221795825hg38UCSC Ensembl
Innerchr1:221795802..221795833hg38UCSC Ensembl
Outerchr1:221795789..221795846hg38UCSC Ensembl
chr1:221969154..221969167hg19UCSC Ensembl
Innerchr1:221969144..221969175hg19UCSC Ensembl
Outerchr1:221969131..221969188hg19UCSC Ensembl
chr1:220035777..220035790hg18UCSC Ensembl
Innerchr1:220035798..220035767hg18UCSC Ensembl
Outerchr1:220035754..220035811hg18UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg38289
hg19289
hg18289
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3423684
Supporting Variants
SamplesNA18965
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8903061
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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