A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7731334



Internal ID14698178
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:215805833..215806242hg38UCSC Ensembl
Innerchr1:215805933..215806142hg38UCSC Ensembl
Outerchr1:215805733..215806342hg38UCSC Ensembl
chr1:215979175..215979584hg19UCSC Ensembl
Innerchr1:215979275..215979484hg19UCSC Ensembl
Outerchr1:215979075..215979684hg19UCSC Ensembl
chr1:214045798..214046207hg18UCSC Ensembl
Innerchr1:214045898..214046107hg18UCSC Ensembl
Outerchr1:214045698..214046307hg18UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg38410
hg19410
hg18410
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3302618
Supporting Variants
SamplesNA19239
Known GenesUSH2A
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7731334
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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