A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3345110



Internal ID15192094
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:236149529..236150827hg38UCSC Ensembl
Innerchr1:236149827..236150529hg38UCSC Ensembl
Outerchr1:236148529..236151827hg38UCSC Ensembl
chr1:236312829..236314127hg19UCSC Ensembl
Innerchr1:236313127..236313829hg19UCSC Ensembl
Outerchr1:236311829..236315127hg19UCSC Ensembl
chr1:234379452..234380750hg18UCSC Ensembl
Innerchr1:234380452..234379750hg18UCSC Ensembl
Outerchr1:234378452..234381750hg18UCSC Ensembl
Cytoband1q42.3
Allele length
AssemblyAllele length
hg381299
hg191299
hg181299
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8692187
SamplesNA19240
Known GenesGPR137B
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3345110
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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