A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10306504



Internal ID3909469
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3588969
Supporting Variants
SamplesHG03563
Known GenesFBXO28
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10306504
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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