A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3589161



Internal ID6972096
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:234022964..234034956hg38UCSC Ensembl
Innerchr1:234022980..234034941hg38UCSC Ensembl
Outerchr1:234022949..234034972hg38UCSC Ensembl
chr1:234158710..234170702hg19UCSC Ensembl
Innerchr1:234158726..234170687hg19UCSC Ensembl
Outerchr1:234158695..234170718hg19UCSC Ensembl
Cytoband1q42.2
Allele length
AssemblyAllele length
hg3811993
hg1911993
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10328918, essv10328919
SamplesNA20881, NA21120
Known GenesSLC35F3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3589161
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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