A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3330144



Internal ID14830421
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:202597001..202598399hg38UCSC Ensembl
Innerchr1:202597399..202598001hg38UCSC Ensembl
Outerchr1:202596001..202599399hg38UCSC Ensembl
chr1:202566129..202567527hg19UCSC Ensembl
Innerchr1:202566527..202567129hg19UCSC Ensembl
Outerchr1:202565129..202568527hg19UCSC Ensembl
chr1:200832752..200834150hg18UCSC Ensembl
Innerchr1:200833752..200833150hg18UCSC Ensembl
Outerchr1:200831752..200835150hg18UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg381399
hg191399
hg181399
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8692099
SamplesNA19239
Known GenesSYT2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3330144
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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