A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2664814



Internal ID9930919
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:37399051..37400474hg38UCSC Ensembl
chr3:37440542..37441965hg19UCSC Ensembl
Cytoband3p22.2
Allele length
AssemblyAllele length
hg381424
hg191424
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6172218, essv5462183, essv6478514, essv6162670
SamplesNA19350, NA19383, NA20127, NA19431
Known GenesC3orf35
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2664814
Frequency
Sample Size1151
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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