A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8692328



Internal ID15067136
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:41328293..41329991hg38UCSC Ensembl
Innerchr1:41328991..41329293hg38UCSC Ensembl
Outerchr1:41327293..41330991hg38UCSC Ensembl
chr1:41793965..41795663hg19UCSC Ensembl
Innerchr1:41794663..41794965hg19UCSC Ensembl
Outerchr1:41792965..41796663hg19UCSC Ensembl
chr1:41566552..41568250hg18UCSC Ensembl
Innerchr1:41567552..41567250hg18UCSC Ensembl
Outerchr1:41565552..41569250hg18UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg381699
hg191699
hg181699
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3395078
Supporting Variants
SamplesNA19239
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8692328
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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