A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8692435



Internal ID14720770
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:1029909..1031607hg38UCSC Ensembl
Innerchr1:1030607..1030909hg38UCSC Ensembl
Outerchr1:1028909..1032607hg38UCSC Ensembl
chr1:965289..966987hg19UCSC Ensembl
Innerchr1:965987..966289hg19UCSC Ensembl
Outerchr1:964289..967987hg19UCSC Ensembl
chr1:955152..956850hg18UCSC Ensembl
Innerchr1:956152..955850hg18UCSC Ensembl
Outerchr1:954152..957850hg18UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg381699
hg191699
hg181699
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3385140
Supporting Variants
SamplesNA19239
Known GenesAGRN
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8692435
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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