A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10255392



Internal ID3580275
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:197924895..197925180hg38UCSC Ensembl
Innerchr1:197924895..197925180hg38UCSC Ensembl
Outerchr1:197924895..197925180hg38UCSC Ensembl
chr1:197894025..197894310hg19UCSC Ensembl
Innerchr1:197894025..197894310hg19UCSC Ensembl
Outerchr1:197894025..197894310hg19UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg38286
hg19286
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3588508
Supporting Variants
SamplesHG03166
Known GenesLHX9
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10255392
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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