A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8691965



Internal ID14718700
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:148552380..148570165hg38UCSC Ensembl
Innerchr1:148552718..148569179hg38UCSC Ensembl
Outerchr1:148552380..148571165hg38UCSC Ensembl
chr1:148286728..148305326hg19UCSC Ensembl
Innerchr1:148287728..148304326hg19UCSC Ensembl
Outerchr1:148285728..148306326hg19UCSC Ensembl
chr1:146653352..146671950hg18UCSC Ensembl
Innerchr1:146654352..146670950hg18UCSC Ensembl
Outerchr1:146652352..146672950hg18UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg3817786
hg1918599
hg1818599
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag0
Merged StatusS
Merged Variantsesv3339988
Supporting Variants
SamplesNA19239
Known GenesLOC101929780, NBPF10, NBPF14, NBPF8, NBPF9
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8691965
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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