A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3597828



Internal ID6984966
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:132611574..132614061hg38UCSC Ensembl
Innerchr3:132611638..132614001hg38UCSC Ensembl
Outerchr3:132611389..132614246hg38UCSC Ensembl
chr3:132330418..132332905hg19UCSC Ensembl
Innerchr3:132330482..132332845hg19UCSC Ensembl
Outerchr3:132330233..132333090hg19UCSC Ensembl
Cytoband3q22.1
Allele length
AssemblyAllele length
hg382488
hg192488
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11154490, essv11154487, essv11154473, essv11154483, essv11154470, essv11154476, essv11154485, essv11154486, essv11154481, essv11154471, essv11154468, essv11154479, essv11154472, essv11154492, essv11154489, essv11154474, essv11154480, essv11154482, essv11154484, essv11154469, essv11154493, essv11154475, essv11154491, essv11154478, essv11154477, essv11154488
SamplesHG02496, HG03484, NA19332, NA19704, HG03449, HG03478, HG03485, NA19130, HG02427, HG03073, NA19236, HG03563, HG03391, NA19257, NA19375, HG02546, HG03433, NA19467, HG03473, NA19323, NA19248, HG03351, NA18873, HG03401, NA19153, NA19431
Known GenesACAD11, NPHP3-ACAD11
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3597828
Frequency
Sample Size2504
Observed Gain0
Observed Loss26
Observed Complex0
Frequencyn/a


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