A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3417245



Internal ID15264203
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:235002535..235002546hg38UCSC Ensembl
Innerchr1:235002514..235002567hg38UCSC Ensembl
Outerchr1:235002503..235002578hg38UCSC Ensembl
chr1:235138282..235138293hg19UCSC Ensembl
Innerchr1:235138261..235138314hg19UCSC Ensembl
Outerchr1:235138250..235138325hg19UCSC Ensembl
chr1:233204905..233204916hg18UCSC Ensembl
Innerchr1:233204937..233204884hg18UCSC Ensembl
Outerchr1:233204873..233204948hg18UCSC Ensembl
Cytoband1q42.3
Allele length
AssemblyAllele length
hg3852
hg1952
hg1852
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7863836
SamplesNA12005
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3417245
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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