A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3588969



Internal ID6976385
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:224150207..224151930hg38UCSC Ensembl
Innerchr1:224150217..224151920hg38UCSC Ensembl
Outerchr1:224150197..224151940hg38UCSC Ensembl
chr1:224337909..224339632hg19UCSC Ensembl
Innerchr1:224337919..224339622hg19UCSC Ensembl
Outerchr1:224337899..224339642hg19UCSC Ensembl
Cytoband1q42.11
Allele length
AssemblyAllele length
hg381724
hg191724
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10306502, essv10306504, essv10306501, essv10306503
SamplesHG03558, HG02885, HG02882, HG03563
Known GenesFBXO28
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3588969
Frequency
Sample Size2504
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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