A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8691955



Internal ID15065349
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:145291967..145299333hg38UCSC Ensembl
Innerchr1:145292879..145298335hg38UCSC Ensembl
Outerchr1:145291967..145300333hg38UCSC Ensembl
chr1:148252228..148254926hg19UCSC Ensembl
Innerchr1:148253228..148253926hg19UCSC Ensembl
Outerchr1:148251228..148255926hg19UCSC Ensembl
chr1:146618852..146621550hg18UCSC Ensembl
Innerchr1:146619852..146620550hg18UCSC Ensembl
Outerchr1:146617852..146622550hg18UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg387367
hg192699
hg182699
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag0
Merged StatusS
Merged Variantsesv3336272
Supporting Variants
SamplesNA19239
Known GenesLOC101929780, NBPF10, NBPF14, NBPF8, NBPF9
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8691955
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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