A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3323222



Internal ID15170196
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:165562682..165562712hg38UCSC Ensembl
Innerchr1:165562691..165562700hg38UCSC Ensembl
Outerchr1:165562661..165562730hg38UCSC Ensembl
chr1:165531919..165531949hg19UCSC Ensembl
Innerchr1:165531928..165531937hg19UCSC Ensembl
Outerchr1:165531898..165531967hg19UCSC Ensembl
chr1:163798543..163798573hg18UCSC Ensembl
Innerchr1:163798561..163798552hg18UCSC Ensembl
Outerchr1:163798522..163798591hg18UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg382130
hg192130
hg182130
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8901626, essv8901630, essv8901627, essv8901629, essv8901628
SamplesNA18526, NA18949, NA18572, NA18570, NA18562
Known GenesLOC400794, LRRC52
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3323222
Frequency
Sample Size185
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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