A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3440155



Internal ID14940422
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:110005898..110005967hg38UCSC Ensembl
Innerchr1:110005916..110005949hg38UCSC Ensembl
Outerchr1:110005847..110006018hg38UCSC Ensembl
chr1:110548520..110548589hg19UCSC Ensembl
Innerchr1:110548538..110548571hg19UCSC Ensembl
Outerchr1:110548469..110548640hg19UCSC Ensembl
chr1:110350043..110350112hg18UCSC Ensembl
Innerchr1:110350094..110350061hg18UCSC Ensembl
Outerchr1:110349992..110350163hg18UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg38190
hg19190
hg18190
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8900943, essv8900942
SamplesNA12249, NA07037
Known GenesAHCYL1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3440155
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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