A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3596162



Internal ID6636435
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:52719203..52725436hg38UCSC Ensembl
Innerchr3:52719353..52725286hg38UCSC Ensembl
Outerchr3:52719053..52725586hg38UCSC Ensembl
chr3:52753219..52759452hg19UCSC Ensembl
Innerchr3:52753369..52759302hg19UCSC Ensembl
Outerchr3:52753069..52759602hg19UCSC Ensembl
Cytoband3p21.1
Allele length
AssemblyAllele length
hg386234
hg196234
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11013774, essv11013775
SamplesHG03224, HG03433
Known GenesNEK4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3596162
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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