A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3594896



Internal ID6635171
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:288339..289172hg38UCSC Ensembl
Innerchr3:288339..289172hg38UCSC Ensembl
Outerchr3:288125..289356hg38UCSC Ensembl
chr3:330022..330855hg19UCSC Ensembl
Innerchr3:330022..330855hg19UCSC Ensembl
Outerchr3:329808..331039hg19UCSC Ensembl
Cytoband3p26.3
Allele length
AssemblyAllele length
hg38834
hg19834
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10897478, essv10897476, essv10897473, essv10897475, essv10897477, essv10897474
SamplesNA18865, NA19117, NA19390, NA19700, HG03352, NA19399
Known GenesCHL1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3594896
Frequency
Sample Size2504
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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