A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3423065



Internal ID15270023
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:54369717..54369791hg38UCSC Ensembl
Innerchr1:54369735..54369770hg38UCSC Ensembl
Outerchr1:54369696..54369809hg38UCSC Ensembl
chr1:54835390..54835464hg19UCSC Ensembl
Innerchr1:54835408..54835443hg19UCSC Ensembl
Outerchr1:54835369..54835482hg19UCSC Ensembl
chr1:54607978..54608052hg18UCSC Ensembl
Innerchr1:54607996..54608031hg18UCSC Ensembl
Outerchr1:54607957..54608070hg18UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg3875
hg1975
hg1875
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8670888, essv8670889
SamplesNA12891, NA12878
Known GenesSSBP3
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3423065
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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