A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3415664



Internal ID15262623
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:149076841..149082803hg38UCSC Ensembl
Innerchr1:149077841..149081803hg38UCSC Ensembl
Outerchr1:149076684..149083816hg38UCSC Ensembl
chr1:148341428..148347426hg19UCSC Ensembl
Innerchr1:148342428..148346426hg19UCSC Ensembl
Outerchr1:148340428..148348426hg19UCSC Ensembl
chr1:146708052..146714050hg18UCSC Ensembl
Innerchr1:146709052..146713050hg18UCSC Ensembl
Outerchr1:146707052..146715050hg18UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg385963
hg195999
hg185999
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8691969
SamplesNA19239
Known GenesLOC101929780, NBPF10, NBPF14, NBPF8, NBPF9
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3415664
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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