A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3397322



Internal ID15244285
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:56596675..56596713hg38UCSC Ensembl
Innerchr1:56596682..56596706hg38UCSC Ensembl
Outerchr1:56596668..56596720hg38UCSC Ensembl
chr1:57062348..57062386hg19UCSC Ensembl
Innerchr1:57062355..57062379hg19UCSC Ensembl
Outerchr1:57062341..57062393hg19UCSC Ensembl
chr1:56834936..56834974hg18UCSC Ensembl
Innerchr1:56834943..56834967hg18UCSC Ensembl
Outerchr1:56834929..56834981hg18UCSC Ensembl
Cytoband1p32.2
Allele length
AssemblyAllele length
hg3851
hg1951
hg1851
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7863701
SamplesNA12005
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3397322
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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