A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3594893



Internal ID6635168
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:242814..379641hg38UCSC Ensembl
chr3:284497..421324hg19UCSC Ensembl
Cytoband3p26.3
Allele length
AssemblyAllele length
hg38136828
hg19136828
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10897468, essv10897467
SamplesHG02238, HG02769
Known GenesCHL1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3594893
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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