A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3351922



Internal ID14852186
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:17689444..17689639hg38UCSC Ensembl
Innerchr1:17689444..17689639hg38UCSC Ensembl
Outerchr1:17686983..17690159hg38UCSC Ensembl
chr1:18015939..18016134hg19UCSC Ensembl
Innerchr1:18015939..18016134hg19UCSC Ensembl
Outerchr1:18013478..18016654hg19UCSC Ensembl
chr1:17888526..17888721hg18UCSC Ensembl
Innerchr1:17888526..17888721hg18UCSC Ensembl
Outerchr1:17886065..17889241hg18UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg38196
hg19196
hg18196
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8652056
SamplesNA19240
Known GenesARHGEF10L
MethodSequencing
Analysis
PlatformSOLiD
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3351922
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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