A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3598964



Internal ID6639229
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:185160219..185180182hg38UCSC Ensembl
chr3:184878007..184897970hg19UCSC Ensembl
Cytoband3q27.2
Allele length
AssemblyAllele length
hg3819964
hg1919964
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11257594
SamplesNA18610
Known GenesEHHADH-AS1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3598964
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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