A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10897474



Internal ID899290
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3594896
Supporting Variants
SamplesNA18865
Known GenesCHL1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10897474
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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