A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3422062



Internal ID14922334
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:216025386..216025400hg38UCSC Ensembl
Innerchr1:216025377..216025409hg38UCSC Ensembl
Outerchr1:216025361..216025423hg38UCSC Ensembl
chr1:216198728..216198742hg19UCSC Ensembl
Innerchr1:216198719..216198751hg19UCSC Ensembl
Outerchr1:216198703..216198765hg19UCSC Ensembl
chr1:214265351..214265365hg18UCSC Ensembl
Innerchr1:214265374..214265342hg18UCSC Ensembl
Outerchr1:214265326..214265388hg18UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg38289
hg19289
hg18289
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8673901, essv8673902, essv8673903
SamplesNA19239, NA19238, NA19240
Known GenesUSH2A
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3422062
Frequency
Sample Size185
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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