A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3422673



Internal ID14922945
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:51362030..51362094hg38UCSC Ensembl
Innerchr1:51362048..51362074hg38UCSC Ensembl
Outerchr1:51361984..51362140hg38UCSC Ensembl
chr1:51827702..51827766hg19UCSC Ensembl
Innerchr1:51827720..51827746hg19UCSC Ensembl
Outerchr1:51827656..51827812hg19UCSC Ensembl
chr1:51600290..51600354hg18UCSC Ensembl
Innerchr1:51600334..51600308hg18UCSC Ensembl
Outerchr1:51600244..51600400hg18UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg38236
hg19236
hg18236
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8899006, essv8899009, essv8899007, essv8899010, essv8899008
SamplesNA12045, NA07346, NA18964, NA12144, NA12776
Known GenesEPS15
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3422673
Frequency
Sample Size185
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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