A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8692434



Internal ID14765129
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:1029709..1031407hg38UCSC Ensembl
Innerchr1:1030407..1030709hg38UCSC Ensembl
Outerchr1:1028709..1032407hg38UCSC Ensembl
chr1:965089..966787hg19UCSC Ensembl
Innerchr1:965787..966089hg19UCSC Ensembl
Outerchr1:964089..967787hg19UCSC Ensembl
chr1:954952..956650hg18UCSC Ensembl
Innerchr1:955952..955650hg18UCSC Ensembl
Outerchr1:953952..957650hg18UCSC 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 Variantsesv3441341
Supporting Variants
SamplesNA19240
Known GenesAGRN
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8692434
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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