A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3439252



Internal ID15286205
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:109759207..109762505hg38UCSC Ensembl
Innerchr1:109760207..109761505hg38UCSC Ensembl
Outerchr1:109758207..109763505hg38UCSC Ensembl
chr1:110301829..110305127hg19UCSC Ensembl
Innerchr1:110302829..110304127hg19UCSC Ensembl
Outerchr1:110300829..110306127hg19UCSC Ensembl
chr1:110103352..110106650hg18UCSC Ensembl
Innerchr1:110104352..110105650hg18UCSC Ensembl
Outerchr1:110102352..110107650hg18UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg383299
hg193299
hg183299
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8691754
SamplesNA19240
Known GenesEPS8L3
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3439252
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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