A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8653222



Internal ID15064262
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:150866725..150866725hg38UCSC Ensembl
Innerchr1:150866724..150866726hg38UCSC Ensembl
Outerchr1:150866675..150866775hg38UCSC Ensembl
chr1:150839201..150839201hg19UCSC Ensembl
Innerchr1:150839200..150839202hg19UCSC Ensembl
Outerchr1:150839151..150839251hg19UCSC Ensembl
chr1:149105825..149105825hg18UCSC Ensembl
Innerchr1:149105826..149105824hg18UCSC Ensembl
Outerchr1:149105775..149105875hg18UCSC Ensembl
Cytoband1q21.2
Allele length
AssemblyAllele length
hg38382
hg19382
hg18382
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3353935
Supporting Variants
SamplesNA19239
Known GenesARNT
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8653222
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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